Canonical Allele Identifier: CA403386551

Gene: MAP2K2

Linked Data

• dbSNP Id: rs770218947
• MyVariant Identifiers: chr19:g.4099333A>G (hg19) ; chr19:g.4099335A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099335A>G , CM000681.2:g.4099335A>G	GRCh38
NC_000019.9:g.4099333A>G , CM000681.1:g.4099333A>G	GRCh37
NC_000019.8:g.4050333A>G	NCBI36
NG_007996.1:g.29794T>C , LRG_750:g.29794T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1224T>C
ENST00000687128.1:n.1224T>C
ENST00000688002.1:n.1079T>C
ENST00000689792.1:n.689T>C
ENST00000262948.10:c.785T>C MANE Select	ENSP00000262948.4:p.Val262Ala
ENST00000262948.9:c.785T>C	ENSP00000262948.3:p.Val262Ala
ENST00000394867.8:c.494T>C	ENSP00000378336.1:p.Val165Ala
ENST00000593364.5:n.732T>C
ENST00000595715.1:n.600T>C
ENST00000597263.5:n.169+1684T>C
ENST00000599021.1:c.29+1684T>C
ENST00000600584.5:n.1345T>C
ENST00000601786.5:n.1086T>C
NM_030662.3:c.785T>C , LRG_750t1:c.785T>C	NP_109587.1:p.Val262Ala
XM_006722799.2:c.705+1684T>C	XP_006722862.1:n.705+1684T>C
XM_011528133.1:c.215T>C	XP_011526435.1:p.Val72Ala
XM_017026989.1:c.785T>C	XP_016882478.1:p.Val262Ala
XM_017026990.1:c.705+1684T>C	XP_016882479.1:n.705+1684T>C
NM_030662.4:c.785T>C MANE Select	NP_109587.1:p.Val262Ala