Canonical Allele Identifier: CA631537044

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1209508106
• gnomAD v2: 19-4090578-C-A
• gnomAD v4: 19-4090580-C-A
• MyVariant Identifiers: chr19:g.4090578C>A (hg19) ; chr19:g.4090580C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090580C>A , CM000681.2:g.4090580C>A	GRCh38
NC_000019.9:g.4090578C>A , CM000681.1:g.4090578C>A	GRCh37
NC_000019.8:g.4041578C>A	NCBI36
NG_007996.1:g.38549G>T , LRG_750:g.38549G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1660G>T
ENST00000688002.1:n.3372G>T
ENST00000688751.1:n.357G>T
ENST00000689792.1:n.1125G>T
ENST00000262948.10:c.*18G>T MANE Select	ENSP00000262948.4:n.*18G>T
ENST00000262948.9:c.*18G>T	ENSP00000262948.3:n.*18G>T
ENST00000394867.8:c.*18G>T	ENSP00000378336.1:n.*18G>T
ENST00000597263.5:n.406G>T
ENST00000600584.5:n.2670G>T
ENST00000601786.5:n.1522G>T
NM_030662.3:c.*18G>T , LRG_750t1:c.*18G>T	NP_109587.1:n.*18G>T
XM_006722799.2:c.*18G>T	XP_006722862.1:n.*18G>T
XM_011528133.1:c.*18G>T	XP_011526435.1:n.*18G>T
NM_030662.4:c.*18G>T MANE Select	NP_109587.1:n.*18G>T