Canonical Allele Identifier: CA403382548

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4094493-A-G
• MyVariant Identifiers: chr19:g.4094491A>G (hg19) ; chr19:g.4094493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094493A>G , CM000681.2:g.4094493A>G	GRCh38
NC_000019.9:g.4094491A>G , CM000681.1:g.4094491A>G	GRCh37
NC_000019.8:g.4045491A>G	NCBI36
NG_007996.1:g.34636T>C , LRG_750:g.34636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1491T>C
ENST00000688002.1:n.3203T>C
ENST00000688751.1:n.188T>C
ENST00000689792.1:n.956T>C
ENST00000262948.10:c.1052T>C MANE Select	ENSP00000262948.4:p.Ile351Thr
ENST00000262948.9:c.1052T>C	ENSP00000262948.3:p.Ile351Thr
ENST00000394867.8:c.761T>C	ENSP00000378336.1:p.Ile254Thr
ENST00000597263.5:n.237T>C
ENST00000599021.1:c.162T>C
ENST00000600584.5:n.2501T>C
ENST00000601786.5:n.1353T>C
NM_030662.3:c.1052T>C , LRG_750t1:c.1052T>C	NP_109587.1:p.Ile351Thr
XM_006722799.2:c.773T>C	XP_006722862.1:p.Ile258Thr
XM_011528133.1:c.482T>C	XP_011526435.1:p.Ile161Thr
NM_030662.4:c.1052T>C MANE Select	NP_109587.1:p.Ile351Thr