Canonical Allele Identifier: CA403392497

Gene: MAP2K2

Linked Data

• dbSNP Id: rs142503093
• gnomAD v2: 19-4117467-C-T
• gnomAD v4: 19-4117469-C-T
• MyVariant Identifiers: chr19:g.4117467C>T (hg19) ; chr19:g.4117469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117469C>T , CM000681.2:g.4117469C>T	GRCh38
NC_000019.9:g.4117467C>T , CM000681.1:g.4117467C>T	GRCh37
NC_000019.8:g.4068467C>T	NCBI36
NG_007996.1:g.11660G>A , LRG_750:g.11660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.692G>A
ENST00000687128.1:n.692G>A
ENST00000262948.10:c.253G>A MANE Select	ENSP00000262948.4:p.Val85Met
ENST00000262948.9:c.253G>A	ENSP00000262948.3:p.Val85Met
ENST00000394867.8:c.-39G>A	ENSP00000378336.1:n.-39G>A
ENST00000599345.1:n.450G>A
NM_030662.3:c.253G>A , LRG_750t1:c.253G>A	NP_109587.1:p.Val85Met
XM_006722799.2:c.253G>A	XP_006722862.1:p.Val85Met
XM_017026989.1:c.253G>A	XP_016882478.1:p.Val85Met
XM_017026990.1:c.253G>A	XP_016882479.1:p.Val85Met
XM_017026991.1:c.253G>A	XP_016882480.1:p.Val85Met
NM_030662.4:c.253G>A MANE Select	NP_109587.1:p.Val85Met