Canonical Allele Identifier: CA403383226

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4095399A>G (hg19) ; chr19:g.4095401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095401A>G , CM000681.2:g.4095401A>G	GRCh38
NC_000019.9:g.4095399A>G , CM000681.1:g.4095399A>G	GRCh37
NC_000019.8:g.4046399A>G	NCBI36
NG_007996.1:g.33728T>C , LRG_750:g.33728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1472T>C
ENST00000688002.1:n.3184T>C
ENST00000688751.1:n.169T>C
ENST00000689792.1:n.937T>C
ENST00000262948.10:c.1033T>C MANE Select	ENSP00000262948.4:p.Phe345Leu
ENST00000262948.9:c.1033T>C	ENSP00000262948.3:p.Phe345Leu
ENST00000394867.8:c.742T>C	ENSP00000378336.1:p.Phe248Leu
ENST00000595715.1:n.848T>C
ENST00000597263.5:n.218T>C
ENST00000599021.1:c.143T>C
ENST00000600584.5:n.1593T>C
ENST00000601786.5:n.1334T>C
NM_030662.3:c.1033T>C , LRG_750t1:c.1033T>C	NP_109587.1:p.Phe345Leu
XM_006722799.2:c.754T>C	XP_006722862.1:p.Phe252Leu
XM_011528133.1:c.463T>C	XP_011526435.1:p.Phe155Leu
XM_017026989.1:c.1033T>C	XP_016882478.1:p.Phe345Leu
XM_017026990.1:c.754T>C	XP_016882479.1:p.Phe252Leu
NM_030662.4:c.1033T>C MANE Select	NP_109587.1:p.Phe345Leu