Canonical Allele Identifier: CA504986849

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1060504779
• gnomAD v4: 19-4099337-G-C
• MyVariant Identifiers: chr19:g.4099335G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099337G>C , CM000681.2:g.4099337G>C	GRCh38
NC_000019.9:g.4099335G>C , CM000681.1:g.4099335G>C	GRCh37
NC_000019.8:g.4050335G>C	NCBI36
NG_007996.1:g.29792C>G , LRG_750:g.29792C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1222C>G
ENST00000687128.1:n.1222C>G
ENST00000688002.1:n.1077C>G
ENST00000689792.1:n.687C>G
ENST00000262948.10:c.783C>G MANE Select	ENSP00000262948.4:p.Ala261=
ENST00000262948.9:c.783C>G	ENSP00000262948.3:p.Ala261=
ENST00000394867.8:c.492C>G	ENSP00000378336.1:p.Ala164=
ENST00000593364.5:n.730C>G
ENST00000595715.1:n.598C>G
ENST00000597263.5:n.169+1682C>G
ENST00000599021.1:c.29+1682C>G
ENST00000600584.5:n.1343C>G
ENST00000601786.5:n.1084C>G
NM_030662.3:c.783C>G , LRG_750t1:c.783C>G	NP_109587.1:p.Ala261=
XM_006722799.2:c.705+1682C>G	XP_006722862.1:n.705+1682C>G
XM_011528133.1:c.213C>G	XP_011526435.1:p.Ala71=
XM_017026989.1:c.783C>G	XP_016882478.1:p.Ala261=
XM_017026990.1:c.705+1682C>G	XP_016882479.1:n.705+1682C>G
NM_030662.4:c.783C>G MANE Select	NP_109587.1:p.Ala261=