Canonical Allele Identifier: CA403391409

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4110560-G-T
• MyVariant Identifiers: chr19:g.4110558G>T (hg19) ; chr19:g.4110560G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110560G>T , CM000681.2:g.4110560G>T	GRCh38
NC_000019.9:g.4110558G>T , CM000681.1:g.4110558G>T	GRCh37
NC_000019.8:g.4061558G>T	NCBI36
NG_007996.1:g.18569C>A , LRG_750:g.18569C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.838C>A
ENST00000687128.1:n.838C>A
ENST00000262948.10:c.399C>A MANE Select	ENSP00000262948.4:p.Phe133Leu
ENST00000262948.9:c.399C>A	ENSP00000262948.3:p.Phe133Leu
ENST00000394867.8:c.108C>A	ENSP00000378336.1:p.Phe36Leu
ENST00000599345.1:n.596C>A
NM_030662.3:c.399C>A , LRG_750t1:c.399C>A	NP_109587.1:p.Phe133Leu
XM_006722799.2:c.399C>A	XP_006722862.1:p.Phe133Leu
XM_017026989.1:c.399C>A	XP_016882478.1:p.Phe133Leu
XM_017026990.1:c.399C>A	XP_016882479.1:p.Phe133Leu
XM_017026991.1:c.399C>A	XP_016882480.1:p.Phe133Leu
NM_030662.4:c.399C>A MANE Select	NP_109587.1:p.Phe133Leu