Canonical Allele Identifier: CA403392855

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1057519809
• gnomAD v2: 19-4117584-G-C
• gnomAD v4: 19-4117586-G-C
• MyVariant Identifiers: chr19:g.4117584G>C (hg19) ; chr19:g.4117586G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117586G>C , CM000681.2:g.4117586G>C	GRCh38
NC_000019.9:g.4117584G>C , CM000681.1:g.4117584G>C	GRCh37
NC_000019.8:g.4068584G>C	NCBI36
NG_007996.1:g.11543C>G , LRG_750:g.11543C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.575C>G
ENST00000687128.1:n.575C>G
ENST00000262948.10:c.136C>G MANE Select	ENSP00000262948.4:p.Leu46Val
ENST00000262948.9:c.136C>G	ENSP00000262948.3:p.Leu46Val
ENST00000394867.8:c.-156C>G	ENSP00000378336.1:n.-156C>G
ENST00000599345.1:n.333C>G
NM_030662.3:c.136C>G , LRG_750t1:c.136C>G	NP_109587.1:p.Leu46Val
XM_006722799.2:c.136C>G	XP_006722862.1:p.Leu46Val
XM_017026989.1:c.136C>G	XP_016882478.1:p.Leu46Val
XM_017026990.1:c.136C>G	XP_016882479.1:p.Leu46Val
XM_017026991.1:c.136C>G	XP_016882480.1:p.Leu46Val
NM_030662.4:c.136C>G MANE Select	NP_109587.1:p.Leu46Val