Canonical Allele Identifier: CA403381194

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2816445
• ClinVar RCV Id: RCV003655730
• MyVariant Identifiers: chr19:g.4090694T>G (hg19) ; chr19:g.4090696T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090696T>G , CM000681.2:g.4090696T>G	GRCh38
NC_000019.9:g.4090694T>G , CM000681.1:g.4090694T>G	GRCh37
NC_000019.8:g.4041694T>G	NCBI36
NG_007996.1:g.38433A>C , LRG_750:g.38433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1544A>C
ENST00000688002.1:n.3256A>C
ENST00000688751.1:n.241A>C
ENST00000689792.1:n.1009A>C
ENST00000262948.10:c.1105A>C MANE Select	ENSP00000262948.4:p.Ile369Leu
ENST00000262948.9:c.1105A>C	ENSP00000262948.3:p.Ile369Leu
ENST00000394867.8:c.814A>C	ENSP00000378336.1:p.Ile272Leu
ENST00000597263.5:n.290A>C
ENST00000599021.1:c.215A>C
ENST00000600584.5:n.2554A>C
ENST00000601786.5:n.1406A>C
NM_030662.3:c.1105A>C , LRG_750t1:c.1105A>C	NP_109587.1:p.Ile369Leu
XM_006722799.2:c.826A>C	XP_006722862.1:p.Ile276Leu
XM_011528133.1:c.535A>C	XP_011526435.1:p.Ile179Leu
NM_030662.4:c.1105A>C MANE Select	NP_109587.1:p.Ile369Leu