Canonical Allele Identifier: CA9090675
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 40848
ClinVar RCV Id: RCV000248903 RCV001636616
dbSNP Id: rs6629
ExAC: 19:4090572 G / A
gnomAD v2: 19-4090572-G-A
gnomAD v3: 19-4090574-G-A
gnomAD v4: 19-4090574-G-A
MyVariant Identifiers: chr19:g.4090572G>A (hg19) chr19:g.4090574G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090574G>A , CM000681.2:g.4090574G>A GRCh38
NC_000019.9:g.4090572G>A , CM000681.1:g.4090572G>A GRCh37
NC_000019.8:g.4041572G>A NCBI36
NG_007996.1:g.38555C>T , LRG_750:g.38555C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1666C>T
ENST00000688002.1:n.3378C>T
ENST00000688751.1:n.363C>T
ENST00000689792.1:n.1131C>T
ENST00000262948.10:c.*24C>T MANE Select ENSP00000262948.4:n.*24C>T
ENST00000262948.9:c.*24C>T ENSP00000262948.3:n.*24C>T
ENST00000394867.8:c.*24C>T ENSP00000378336.1:n.*24C>T
ENST00000597263.5:n.412C>T
ENST00000600584.5:n.2676C>T
ENST00000601786.5:n.1528C>T
NM_030662.3:c.*24C>T , LRG_750t1:c.*24C>T NP_109587.1:n.*24C>T
XM_006722799.2:c.*24C>T XP_006722862.1:n.*24C>T
XM_011528133.1:c.*24C>T XP_011526435.1:n.*24C>T
NM_030662.4:c.*24C>T MANE Select NP_109587.1:n.*24C>T
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