Canonical Allele Identifier: CA403380876

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090645-T-G
• MyVariant Identifiers: chr19:g.4090643T>G (hg19) ; chr19:g.4090645T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090645T>G , CM000681.2:g.4090645T>G	GRCh38
NC_000019.9:g.4090643T>G , CM000681.1:g.4090643T>G	GRCh37
NC_000019.8:g.4041643T>G	NCBI36
NG_007996.1:g.38484A>C , LRG_750:g.38484A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1595A>C
ENST00000688002.1:n.3307A>C
ENST00000688751.1:n.292A>C
ENST00000689792.1:n.1060A>C
ENST00000262948.10:c.1156A>C MANE Select	ENSP00000262948.4:p.Thr386Pro
ENST00000262948.9:c.1156A>C	ENSP00000262948.3:p.Thr386Pro
ENST00000394867.8:c.865A>C	ENSP00000378336.1:p.Thr289Pro
ENST00000597263.5:n.341A>C
ENST00000599021.1:c.266A>C
ENST00000600584.5:n.2605A>C
ENST00000601786.5:n.1457A>C
NM_030662.3:c.1156A>C , LRG_750t1:c.1156A>C	NP_109587.1:p.Thr386Pro
XM_006722799.2:c.877A>C	XP_006722862.1:p.Thr293Pro
XM_011528133.1:c.586A>C	XP_011526435.1:p.Thr196Pro
NM_030662.4:c.1156A>C MANE Select	NP_109587.1:p.Thr386Pro