Canonical Allele Identifier: CA403380599

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090602-A-G
• MyVariant Identifiers: chr19:g.4090600A>G (hg19) ; chr19:g.4090602A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090602A>G , CM000681.2:g.4090602A>G	GRCh38
NC_000019.9:g.4090600A>G , CM000681.1:g.4090600A>G	GRCh37
NC_000019.8:g.4041600A>G	NCBI36
NG_007996.1:g.38527T>C , LRG_750:g.38527T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1638T>C
ENST00000688002.1:n.3350T>C
ENST00000688751.1:n.335T>C
ENST00000689792.1:n.1103T>C
ENST00000262948.10:c.1199T>C MANE Select	ENSP00000262948.4:p.Val400Ala
ENST00000262948.9:c.1199T>C	ENSP00000262948.3:p.Val400Ala
ENST00000394867.8:c.908T>C	ENSP00000378336.1:p.Val303Ala
ENST00000597263.5:n.384T>C
ENST00000599021.1:c.309T>C
ENST00000600584.5:n.2648T>C
ENST00000601786.5:n.1500T>C
NM_030662.3:c.1199T>C , LRG_750t1:c.1199T>C	NP_109587.1:p.Val400Ala
XM_006722799.2:c.920T>C	XP_006722862.1:p.Val307Ala
XM_011528133.1:c.629T>C	XP_011526435.1:p.Val210Ala
NM_030662.4:c.1199T>C MANE Select	NP_109587.1:p.Val400Ala