Canonical Allele Identifier: CA403385142

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1451406400
• gnomAD v4: 19-4099210-G-T
• MyVariant Identifiers: chr19:g.4099208G>T (hg19) ; chr19:g.4099210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099210G>T , CM000681.2:g.4099210G>T	GRCh38
NC_000019.9:g.4099208G>T , CM000681.1:g.4099208G>T	GRCh37
NC_000019.8:g.4050208G>T	NCBI36
NG_007996.1:g.29919C>A , LRG_750:g.29919C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1349C>A
ENST00000687128.1:n.1349C>A
ENST00000688002.1:n.1204C>A
ENST00000689792.1:n.814C>A
ENST00000262948.10:c.910C>A MANE Select	ENSP00000262948.4:p.Pro304Thr
ENST00000262948.9:c.910C>A	ENSP00000262948.3:p.Pro304Thr
ENST00000394867.8:c.619C>A	ENSP00000378336.1:p.Pro207Thr
ENST00000593364.5:n.857C>A
ENST00000595715.1:n.725C>A
ENST00000597263.5:n.169+1809C>A
ENST00000599021.1:c.29+1809C>A
ENST00000600584.5:n.1470C>A
ENST00000601786.5:n.1211C>A
NM_030662.3:c.910C>A , LRG_750t1:c.910C>A	NP_109587.1:p.Pro304Thr
XM_006722799.2:c.705+1809C>A	XP_006722862.1:n.705+1809C>A
XM_011528133.1:c.340C>A	XP_011526435.1:p.Pro114Thr
XM_017026989.1:c.910C>A	XP_016882478.1:p.Pro304Thr
XM_017026990.1:c.705+1809C>A	XP_016882479.1:n.705+1809C>A
NM_030662.4:c.910C>A MANE Select	NP_109587.1:p.Pro304Thr