Canonical Allele Identifier: CA631537057

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1472691111
• gnomAD v2: 19-4090592-A-G
• gnomAD v4: 19-4090594-A-G
• MyVariant Identifiers: chr19:g.4090592A>G (hg19) ; chr19:g.4090594A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090594A>G , CM000681.2:g.4090594A>G	GRCh38
NC_000019.9:g.4090592A>G , CM000681.1:g.4090592A>G	GRCh37
NC_000019.8:g.4041592A>G	NCBI36
NG_007996.1:g.38535T>C , LRG_750:g.38535T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1646T>C
ENST00000688002.1:n.3358T>C
ENST00000688751.1:n.343T>C
ENST00000689792.1:n.1111T>C
ENST00000262948.10:c.*4T>C MANE Select	ENSP00000262948.4:n.*4T>C
ENST00000262948.9:c.*4T>C	ENSP00000262948.3:n.*4T>C
ENST00000394867.8:c.*4T>C	ENSP00000378336.1:n.*4T>C
ENST00000597263.5:n.392T>C
ENST00000600584.5:n.2656T>C
ENST00000601786.5:n.1508T>C
NM_030662.3:c.*4T>C , LRG_750t1:c.*4T>C	NP_109587.1:n.*4T>C
XM_006722799.2:c.*4T>C	XP_006722862.1:n.*4T>C
XM_011528133.1:c.*4T>C	XP_011526435.1:n.*4T>C
NM_030662.4:c.*4T>C MANE Select	NP_109587.1:n.*4T>C