Canonical Allele Identifier: CA504986773

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1312814035
• gnomAD v2: 19-4099317-G-T
• gnomAD v4: 19-4099319-G-T
• MyVariant Identifiers: chr19:g.4099317G>T (hg19) ; chr19:g.4099319G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099319G>T , CM000681.2:g.4099319G>T	GRCh38
NC_000019.9:g.4099317G>T , CM000681.1:g.4099317G>T	GRCh37
NC_000019.8:g.4050317G>T	NCBI36
NG_007996.1:g.29810C>A , LRG_750:g.29810C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1240C>A
ENST00000687128.1:n.1240C>A
ENST00000688002.1:n.1095C>A
ENST00000689792.1:n.705C>A
ENST00000262948.10:c.801C>A MANE Select	ENSP00000262948.4:p.Ile267=
ENST00000262948.9:c.801C>A	ENSP00000262948.3:p.Ile267=
ENST00000394867.8:c.510C>A	ENSP00000378336.1:p.Ile170=
ENST00000593364.5:n.748C>A
ENST00000595715.1:n.616C>A
ENST00000597263.5:n.169+1700C>A
ENST00000599021.1:c.29+1700C>A
ENST00000600584.5:n.1361C>A
ENST00000601786.5:n.1102C>A
NM_030662.3:c.801C>A , LRG_750t1:c.801C>A	NP_109587.1:p.Ile267=
XM_006722799.2:c.705+1700C>A	XP_006722862.1:n.705+1700C>A
XM_011528133.1:c.231C>A	XP_011526435.1:p.Ile77=
XM_017026989.1:c.801C>A	XP_016882478.1:p.Ile267=
XM_017026990.1:c.705+1700C>A	XP_016882479.1:n.705+1700C>A
NM_030662.4:c.801C>A MANE Select	NP_109587.1:p.Ile267=