Canonical Allele Identifier: CA403386477

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099315-G-T
• MyVariant Identifiers: chr19:g.4099313G>T (hg19) ; chr19:g.4099315G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099315G>T , CM000681.2:g.4099315G>T	GRCh38
NC_000019.9:g.4099313G>T , CM000681.1:g.4099313G>T	GRCh37
NC_000019.8:g.4050313G>T	NCBI36
NG_007996.1:g.29814C>A , LRG_750:g.29814C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1244C>A
ENST00000687128.1:n.1244C>A
ENST00000688002.1:n.1099C>A
ENST00000689792.1:n.709C>A
ENST00000262948.10:c.805C>A MANE Select	ENSP00000262948.4:p.Pro269Thr
ENST00000262948.9:c.805C>A	ENSP00000262948.3:p.Pro269Thr
ENST00000394867.8:c.514C>A	ENSP00000378336.1:p.Pro172Thr
ENST00000593364.5:n.752C>A
ENST00000595715.1:n.620C>A
ENST00000597263.5:n.169+1704C>A
ENST00000599021.1:c.29+1704C>A
ENST00000600584.5:n.1365C>A
ENST00000601786.5:n.1106C>A
NM_030662.3:c.805C>A , LRG_750t1:c.805C>A	NP_109587.1:p.Pro269Thr
XM_006722799.2:c.705+1704C>A	XP_006722862.1:n.705+1704C>A
XM_011528133.1:c.235C>A	XP_011526435.1:p.Pro79Thr
XM_017026989.1:c.805C>A	XP_016882478.1:p.Pro269Thr
XM_017026990.1:c.705+1704C>A	XP_016882479.1:n.705+1704C>A
NM_030662.4:c.805C>A MANE Select	NP_109587.1:p.Pro269Thr