Canonical Allele Identifier: CA304445647

Gene: MAP2K2

Linked Data

• dbSNP Id: rs889917299
• gnomAD v2: 19-4090496-A-C
• gnomAD v3: 19-4090498-A-C
• gnomAD v4: 19-4090498-A-C
• MyVariant Identifiers: chr19:g.4090496A>C (hg19) ; chr19:g.4090498A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090498A>C , CM000681.2:g.4090498A>C	GRCh38
NC_000019.9:g.4090496A>C , CM000681.1:g.4090496A>C	GRCh37
NC_000019.8:g.4041496A>C	NCBI36
NG_007996.1:g.38631T>G , LRG_750:g.38631T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1742T>G
ENST00000688002.1:n.3454T>G
ENST00000688751.1:n.439T>G
ENST00000689792.1:n.1207T>G
ENST00000262948.10:c.*100T>G MANE Select	ENSP00000262948.4:n.*100T>G
ENST00000262948.9:c.*100T>G	ENSP00000262948.3:n.*100T>G
ENST00000394867.8:c.*100T>G	ENSP00000378336.1:n.*100T>G
ENST00000597263.5:n.488T>G
ENST00000600584.5:n.2752T>G
ENST00000601786.5:n.1604T>G
NM_030662.3:c.*100T>G , LRG_750t1:c.*100T>G	NP_109587.1:n.*100T>G
XM_006722799.2:c.*100T>G	XP_006722862.1:n.*100T>G
XM_011528133.1:c.*100T>G	XP_011526435.1:n.*100T>G
NM_030662.4:c.*100T>G MANE Select	NP_109587.1:n.*100T>G