Canonical Allele Identifier: CA2319224258

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040960978
• gnomAD v4: 19-4099052-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099052C>A , CM000681.2:g.4099052C>A	GRCh38
NC_000019.9:g.4099050C>A , CM000681.1:g.4099050C>A	GRCh37
NC_000019.8:g.4050050C>A	NCBI36
NG_007996.1:g.30077G>T , LRG_750:g.30077G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1358+149G>T
ENST00000687128.1:n.1507G>T
ENST00000688002.1:n.1362G>T
ENST00000689792.1:n.823+149G>T
ENST00000262948.10:c.919+149G>T MANE Select	ENSP00000262948.4:n.919+149G>T
ENST00000262948.9:c.919+149G>T	ENSP00000262948.3:n.919+149G>T
ENST00000394867.8:c.628+149G>T	ENSP00000378336.1:n.628+149G>T
ENST00000595715.1:n.734+149G>T
ENST00000597263.5:n.169+1967G>T
ENST00000599021.1:c.30-1709G>T
ENST00000600584.5:n.1479+149G>T
ENST00000601786.5:n.1220+149G>T
NM_030662.3:c.919+149G>T , LRG_750t1:c.919+149G>T	NP_109587.1:n.919+149G>T
XM_006722799.2:c.705+1967G>T	XP_006722862.1:n.705+1967G>T
XM_011528133.1:c.349+149G>T	XP_011526435.1:n.349+149G>T
XM_017026989.1:c.919+149G>T	XP_016882478.1:n.919+149G>T
XM_017026990.1:c.705+1967G>T	XP_016882479.1:n.705+1967G>T
NM_030662.4:c.919+149G>T MANE Select	NP_109587.1:n.919+149G>T