Canonical Allele Identifier: CA9090682

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 697209
• ClinVar RCV Id: RCV000863950 ; RCV001193489 ; RCV001593076 ; RCV002336765
• dbSNP Id: rs148592592
• ExAC: 19:4090608 G / A
• gnomAD v2: 19-4090608-G-A
• gnomAD v3: 19-4090610-G-A
• gnomAD v4: 19-4090610-G-A
• MyVariant Identifiers: chr19:g.4090608G>A (hg19) ; chr19:g.4090610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090610G>A , CM000681.2:g.4090610G>A	GRCh38
NC_000019.9:g.4090608G>A , CM000681.1:g.4090608G>A	GRCh37
NC_000019.8:g.4041608G>A	NCBI36
NG_007996.1:g.38519C>T , LRG_750:g.38519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1630C>T
ENST00000688002.1:n.3342C>T
ENST00000688751.1:n.327C>T
ENST00000689792.1:n.1095C>T
ENST00000262948.10:c.1191C>T MANE Select	ENSP00000262948.4:p.Arg397=
ENST00000262948.9:c.1191C>T	ENSP00000262948.3:p.Arg397=
ENST00000394867.8:c.900C>T	ENSP00000378336.1:p.Arg300=
ENST00000597263.5:n.376C>T
ENST00000599021.1:c.301C>T
ENST00000600584.5:n.2640C>T
ENST00000601786.5:n.1492C>T
NM_030662.3:c.1191C>T , LRG_750t1:c.1191C>T	NP_109587.1:p.Arg397=
XM_006722799.2:c.912C>T	XP_006722862.1:p.Arg304=
XM_011528133.1:c.621C>T	XP_011526435.1:p.Arg207=
NM_030662.4:c.1191C>T MANE Select	NP_109587.1:p.Arg397=