Canonical Allele Identifier: CA403380610

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2548628
• ClinVar RCV Id: RCV004321635
• MyVariant Identifiers: chr19:g.4090601C>A (hg19) ; chr19:g.4090603C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090603C>A , CM000681.2:g.4090603C>A	GRCh38
NC_000019.9:g.4090601C>A , CM000681.1:g.4090601C>A	GRCh37
NC_000019.8:g.4041601C>A	NCBI36
NG_007996.1:g.38526G>T , LRG_750:g.38526G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1637G>T
ENST00000688002.1:n.3349G>T
ENST00000688751.1:n.334G>T
ENST00000689792.1:n.1102G>T
ENST00000262948.10:c.1198G>T MANE Select	ENSP00000262948.4:p.Val400Leu
ENST00000262948.9:c.1198G>T	ENSP00000262948.3:p.Val400Leu
ENST00000394867.8:c.907G>T	ENSP00000378336.1:p.Val303Leu
ENST00000597263.5:n.383G>T
ENST00000599021.1:c.308G>T
ENST00000600584.5:n.2647G>T
ENST00000601786.5:n.1499G>T
NM_030662.3:c.1198G>T , LRG_750t1:c.1198G>T	NP_109587.1:p.Val400Leu
XM_006722799.2:c.919G>T	XP_006722862.1:p.Val307Leu
XM_011528133.1:c.628G>T	XP_011526435.1:p.Val210Leu
NM_030662.4:c.1198G>T MANE Select	NP_109587.1:p.Val400Leu