Canonical Allele Identifier: CA403381175

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090693-T-G
• MyVariant Identifiers: chr19:g.4090691T>G (hg19) ; chr19:g.4090693T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090693T>G , CM000681.2:g.4090693T>G	GRCh38
NC_000019.9:g.4090691T>G , CM000681.1:g.4090691T>G	GRCh37
NC_000019.8:g.4041691T>G	NCBI36
NG_007996.1:g.38436A>C , LRG_750:g.38436A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1547A>C
ENST00000688002.1:n.3259A>C
ENST00000688751.1:n.244A>C
ENST00000689792.1:n.1012A>C
ENST00000262948.10:c.1108A>C MANE Select	ENSP00000262948.4:p.Lys370Gln
ENST00000262948.9:c.1108A>C	ENSP00000262948.3:p.Lys370Gln
ENST00000394867.8:c.817A>C	ENSP00000378336.1:p.Lys273Gln
ENST00000597263.5:n.293A>C
ENST00000599021.1:c.218A>C
ENST00000600584.5:n.2557A>C
ENST00000601786.5:n.1409A>C
NM_030662.3:c.1108A>C , LRG_750t1:c.1108A>C	NP_109587.1:p.Lys370Gln
XM_006722799.2:c.829A>C	XP_006722862.1:p.Lys277Gln
XM_011528133.1:c.538A>C	XP_011526435.1:p.Lys180Gln
NM_030662.4:c.1108A>C MANE Select	NP_109587.1:p.Lys370Gln