Canonical Allele Identifier: CA992817291
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2040844660
gnomAD v3: 19-4090525-T-C
gnomAD v4: 19-4090525-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090525T>C , CM000681.2:g.4090525T>C GRCh38
NC_000019.9:g.4090523T>C , CM000681.1:g.4090523T>C GRCh37
NC_000019.8:g.4041523T>C NCBI36
NG_007996.1:g.38604A>G , LRG_750:g.38604A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1715A>G
ENST00000688002.1:n.3427A>G
ENST00000688751.1:n.412A>G
ENST00000689792.1:n.1180A>G
ENST00000262948.10:c.*73A>G MANE Select ENSP00000262948.4:n.*73A>G
ENST00000262948.9:c.*73A>G ENSP00000262948.3:n.*73A>G
ENST00000394867.8:c.*73A>G ENSP00000378336.1:n.*73A>G
ENST00000597263.5:n.461A>G
ENST00000600584.5:n.2725A>G
ENST00000601786.5:n.1577A>G
NM_030662.3:c.*73A>G , LRG_750t1:c.*73A>G NP_109587.1:n.*73A>G
XM_006722799.2:c.*73A>G XP_006722862.1:n.*73A>G
XM_011528133.1:c.*73A>G XP_011526435.1:n.*73A>G
NM_030662.4:c.*73A>G MANE Select NP_109587.1:n.*73A>G
Search 100 bp 5'
Search 100 bp 3'