Canonical Allele Identifier: CA10636391
Gene: MAP2K1 HGNC NCBI
TIPIN HGNC NCBI

Linked Data

ClinVar Variation Id: 316831
ClinVar RCV Id: RCV001560066
dbSNP Id: rs73469977
gnomAD v2: 15-66679238-C-T
gnomAD v3: 15-66386900-C-T
gnomAD v4: 15-66386900-C-T
MyVariant Identifiers: chr15:g.66679238C>T (hg19) chr15:g.66386900C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66386900C>T , CM000677.2:g.66386900C>T GRCh38
NC_000015.9:g.66679238C>T , CM000677.1:g.66679238C>T GRCh37
NC_000015.8:g.64466292C>T NCBI36
NG_008305.1:g.5028C>T , LRG_725:g.5028C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307102.9:c.-448C>T (MAP2K1) ENSP00000302486.4:n.-448C>T
ENST00000425818.2:n.64C>T (MAP2K1)
NM_002755.3:c.-448C>T , LRG_725t1:c.-448C>T (MAP2K1) NP_002746.1:n.-448C>T
XM_005254521.3:c.-118G>A (TIPIN) XP_005254578.2:n.-118G>A
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