Canonical Allele Identifier: CA505162400
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2145080714
MyVariant Identifiers: chr19:g.4117588C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117590C>A , CM000681.2:g.4117590C>A GRCh38
NC_000019.9:g.4117588C>A , CM000681.1:g.4117588C>A GRCh37
NC_000019.8:g.4068588C>A NCBI36
NG_007996.1:g.11539G>T , LRG_750:g.11539G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.571G>T
ENST00000687128.1:n.571G>T
ENST00000262948.10:c.132G>T MANE Select ENSP00000262948.4:p.Leu44=
ENST00000262948.9:c.132G>T ENSP00000262948.3:p.Leu44=
ENST00000394867.8:c.-160G>T ENSP00000378336.1:n.-160G>T
ENST00000599345.1:n.329G>T
NM_030662.3:c.132G>T , LRG_750t1:c.132G>T NP_109587.1:p.Leu44=
XM_006722799.2:c.132G>T XP_006722862.1:p.Leu44=
XM_017026989.1:c.132G>T XP_016882478.1:p.Leu44=
XM_017026990.1:c.132G>T XP_016882479.1:p.Leu44=
XM_017026991.1:c.132G>T XP_016882480.1:p.Leu44=
NM_030662.4:c.132G>T MANE Select NP_109587.1:p.Leu44=