Canonical Allele Identifier: CA504986218

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099205-G-A
• MyVariant Identifiers: chr19:g.4099203G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099205G>A , CM000681.2:g.4099205G>A	GRCh38
NC_000019.9:g.4099203G>A , CM000681.1:g.4099203G>A	GRCh37
NC_000019.8:g.4050203G>A	NCBI36
NG_007996.1:g.29924C>T , LRG_750:g.29924C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1354C>T
ENST00000687128.1:n.1354C>T
ENST00000688002.1:n.1209C>T
ENST00000689792.1:n.819C>T
ENST00000262948.10:c.915C>T MANE Select	ENSP00000262948.4:p.Val305=
ENST00000262948.9:c.915C>T	ENSP00000262948.3:p.Val305=
ENST00000394867.8:c.624C>T	ENSP00000378336.1:p.Val208=
ENST00000593364.5:n.862C>T
ENST00000595715.1:n.730C>T
ENST00000597263.5:n.169+1814C>T
ENST00000599021.1:c.29+1814C>T
ENST00000600584.5:n.1475C>T
ENST00000601786.5:n.1216C>T
NM_030662.3:c.915C>T , LRG_750t1:c.915C>T	NP_109587.1:p.Val305=
XM_006722799.2:c.705+1814C>T	XP_006722862.1:n.705+1814C>T
XM_011528133.1:c.345C>T	XP_011526435.1:p.Val115=
XM_017026989.1:c.915C>T	XP_016882478.1:p.Val305=
XM_017026990.1:c.705+1814C>T	XP_016882479.1:n.705+1814C>T
NM_030662.4:c.915C>T MANE Select	NP_109587.1:p.Val305=