Canonical Allele Identifier: CA504984315
Gene: MAP2K2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.4090632C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090634C>G , CM000681.2:g.4090634C>G GRCh38
NC_000019.9:g.4090632C>G , CM000681.1:g.4090632C>G GRCh37
NC_000019.8:g.4041632C>G NCBI36
NG_007996.1:g.38495G>C , LRG_750:g.38495G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1606G>C
ENST00000688002.1:n.3318G>C
ENST00000688751.1:n.303G>C
ENST00000689792.1:n.1071G>C
ENST00000262948.10:c.1167G>C MANE Select ENSP00000262948.4:p.Leu389=
ENST00000262948.9:c.1167G>C ENSP00000262948.3:p.Leu389=
ENST00000394867.8:c.876G>C ENSP00000378336.1:p.Leu292=
ENST00000597263.5:n.352G>C
ENST00000599021.1:c.277G>C
ENST00000600584.5:n.2616G>C
ENST00000601786.5:n.1468G>C
NM_030662.3:c.1167G>C , LRG_750t1:c.1167G>C NP_109587.1:p.Leu389=
XM_006722799.2:c.888G>C XP_006722862.1:p.Leu296=
XM_011528133.1:c.597G>C XP_011526435.1:p.Leu199=
NM_030662.4:c.1167G>C MANE Select NP_109587.1:p.Leu389=