Canonical Allele Identifier: CA373086225
Community Standard Title: NM_000077.5(CDKN2A):c.254C>G (p.Ala85Gly)
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971105G>C , CM000671.2:g.21971105G>C GRCh38
NC_000009.11:g.21971104G>C , CM000671.1:g.21971104G>C GRCh37
NC_000009.10:g.21961104G>C NCBI36
NG_007485.1:g.28387C>G , LRG_11:g.28387C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000077.5:c.254C>G MANE Select NP_000068.1:p.Ala85Gly
ENST00000304494.10:c.254C>G MANE Select ENSP00000307101.5:p.Ala85Gly
NM_058195.4:c.297C>G MANE Plus Clinical NP_478102.2:p.Arg99=
ENST00000579755.2:c.297C>G MANE Plus Clinical ENSP00000462950.1:p.Arg99=
NM_000077.4:c.254C>G , LRG_11t1:c.254C>G NP_000068.1:p.Ala85Gly
NM_001195132.1:c.254C>G NP_001182061.1:p.Ala85Gly
NM_001195132.2:c.254C>G NP_001182061.1:p.Ala85Gly
NM_001363763.1:c.101C>G NP_001350692.1:p.Ala34Gly
NM_001363763.2:c.101C>G NP_001350692.1:p.Ala34Gly
NM_058195.3:c.297C>G , LRG_11t2:c.297C>G NP_478102.2:p.Arg99=
NM_058197.4:c.528C>G NP_478104.2:n.528C>G
NM_058197.5:c.*177C>G NP_478104.2:n.*177C>G
ENST00000304494.9:c.254C>G ENSP00000307101.5:p.Ala85Gly
ENST00000361570.4:c.296C>G ENSP00000355153.4:p.Ala99Gly
ENST00000380150.2:n.228C>G
ENST00000380151.3:c.528C>G ENSP00000369496.3:n.528C>G
ENST00000404796.2:c.348-58328G>C ENSP00000385916.2:n.348-58328G>C
ENST00000404796.3:c.348-58328G>C ENSP00000385916.2:n.348-58328G>C
ENST00000479692.2:c.101C>G ENSP00000466887.1:p.Ala34Gly
ENST00000494262.5:c.101C>G ENSP00000464952.1:p.Ala34Gly
ENST00000497750.1:c.101C>G ENSP00000468510.1:p.Ala34Gly
ENST00000498124.1:c.254C>G ENSP00000418915.1:p.Ala85Gly
ENST00000498628.6:c.101C>G ENSP00000467857.1:p.Ala34Gly
ENST00000530628.2:c.297C>G ENSP00000432664.2:p.Arg99=
ENST00000578845.2:c.101C>G ENSP00000467390.1:p.Ala34Gly
ENST00000579122.1:c.254C>G ENSP00000464202.1:p.Ala85Gly
ENST00000579755.1:c.297C>G ENSP00000462950.1:p.Arg99=
XM_005251343.1:c.101C>G XP_005251400.1:p.Ala34Gly
XM_011517675.1:c.254C>G XP_011515977.1:p.Ala85Gly
XM_011517675.2:c.254C>G XP_011515977.1:p.Ala85Gly
XM_011517676.1:c.254C>G XP_011515978.1:p.Ala85Gly
XM_011517676.2:c.254C>G XP_011515978.1:p.Ala85Gly
XM_011517679.1:c.101C>G XP_011515981.1:p.Ala34Gly
XR_929159.1:n.655C>G
XR_929159.2:n.584C>G
XR_929161.1:n.444C>G
XR_929162.1:n.444C>G
XR_929163.1:n.393C>G
XR_929164.1:n.176C>G