Canonical Allele Identifier: CA2319219722

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040845347
• gnomAD v4: 19-4090582-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090582G>A , CM000681.2:g.4090582G>A	GRCh38
NC_000019.9:g.4090580G>A , CM000681.1:g.4090580G>A	GRCh37
NC_000019.8:g.4041580G>A	NCBI36
NG_007996.1:g.38547C>T , LRG_750:g.38547C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1658C>T
ENST00000688002.1:n.3370C>T
ENST00000688751.1:n.355C>T
ENST00000689792.1:n.1123C>T
ENST00000262948.10:c.*16C>T MANE Select	ENSP00000262948.4:n.*16C>T
ENST00000262948.9:c.*16C>T	ENSP00000262948.3:n.*16C>T
ENST00000394867.8:c.*16C>T	ENSP00000378336.1:n.*16C>T
ENST00000597263.5:n.404C>T
ENST00000600584.5:n.2668C>T
ENST00000601786.5:n.1520C>T
NM_030662.3:c.*16C>T , LRG_750t1:c.*16C>T	NP_109587.1:n.*16C>T
XM_006722799.2:c.*16C>T	XP_006722862.1:n.*16C>T
XM_011528133.1:c.*16C>T	XP_011526435.1:n.*16C>T
NM_030662.4:c.*16C>T MANE Select	NP_109587.1:n.*16C>T