Canonical Allele Identifier: CA403391451

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4110569T>A (hg19) ; chr19:g.4110571T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110571T>A , CM000681.2:g.4110571T>A	GRCh38
NC_000019.9:g.4110569T>A , CM000681.1:g.4110569T>A	GRCh37
NC_000019.8:g.4061569T>A	NCBI36
NG_007996.1:g.18558A>T , LRG_750:g.18558A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.827A>T
ENST00000687128.1:n.827A>T
ENST00000262948.10:c.388A>T MANE Select	ENSP00000262948.4:p.Ile130Phe
ENST00000262948.9:c.388A>T	ENSP00000262948.3:p.Ile130Phe
ENST00000394867.8:c.97A>T	ENSP00000378336.1:p.Ile33Phe
ENST00000599345.1:n.585A>T
NM_030662.3:c.388A>T , LRG_750t1:c.388A>T	NP_109587.1:p.Ile130Phe
XM_006722799.2:c.388A>T	XP_006722862.1:p.Ile130Phe
XM_017026989.1:c.388A>T	XP_016882478.1:p.Ile130Phe
XM_017026990.1:c.388A>T	XP_016882479.1:p.Ile130Phe
XM_017026991.1:c.388A>T	XP_016882480.1:p.Ile130Phe
NM_030662.4:c.388A>T MANE Select	NP_109587.1:p.Ile130Phe