Canonical Allele Identifier: CA403381191
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090696-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090696T>C , CM000681.2:g.4090696T>C GRCh38
NC_000019.9:g.4090694T>C , CM000681.1:g.4090694T>C GRCh37
NC_000019.8:g.4041694T>C NCBI36
NG_007996.1:g.38433A>G , LRG_750:g.38433A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1544A>G
ENST00000688002.1:n.3256A>G
ENST00000688751.1:n.241A>G
ENST00000689792.1:n.1009A>G
ENST00000262948.10:c.1105A>G MANE Select ENSP00000262948.4:p.Ile369Val
ENST00000262948.9:c.1105A>G ENSP00000262948.3:p.Ile369Val
ENST00000394867.8:c.814A>G ENSP00000378336.1:p.Ile272Val
ENST00000597263.5:n.290A>G
ENST00000599021.1:c.215A>G
ENST00000600584.5:n.2554A>G
ENST00000601786.5:n.1406A>G
NM_030662.3:c.1105A>G , LRG_750t1:c.1105A>G NP_109587.1:p.Ile369Val
XM_006722799.2:c.826A>G XP_006722862.1:p.Ile276Val
XM_011528133.1:c.535A>G XP_011526435.1:p.Ile179Val
NM_030662.4:c.1105A>G MANE Select NP_109587.1:p.Ile369Val