Canonical Allele Identifier: CA304449350

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1021117913
• gnomAD v2: 19-4099495-C-T
• gnomAD v3: 19-4099497-C-T
• gnomAD v4: 19-4099497-C-T
• MyVariant Identifiers: chr19:g.4099495C>T (hg19) ; chr19:g.4099497C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099497C>T , CM000681.2:g.4099497C>T	GRCh38
NC_000019.9:g.4099495C>T , CM000681.1:g.4099495C>T	GRCh37
NC_000019.8:g.4050495C>T	NCBI36
NG_007996.1:g.29632G>A , LRG_750:g.29632G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-83G>A
ENST00000687128.1:n.1145-83G>A
ENST00000688002.1:n.917G>A
ENST00000689792.1:n.646-119G>A
ENST00000262948.10:c.706-83G>A MANE Select	ENSP00000262948.4:n.706-83G>A
ENST00000262948.9:c.706-83G>A	ENSP00000262948.3:n.706-83G>A
ENST00000394867.8:c.415-83G>A	ENSP00000378336.1:n.415-83G>A
ENST00000593364.5:n.653-83G>A
ENST00000595715.1:n.438G>A
ENST00000597263.5:n.169+1522G>A
ENST00000599021.1:c.29+1522G>A
ENST00000600584.5:n.1183G>A
ENST00000601786.5:n.1007-83G>A
ENST00000602167.5:n.426-83G>A
NM_030662.3:c.706-83G>A , LRG_750t1:c.706-83G>A	NP_109587.1:n.706-83G>A
XM_006722799.2:c.705+1522G>A	XP_006722862.1:n.705+1522G>A
XM_011528133.1:c.136-83G>A	XP_011526435.1:n.136-83G>A
XM_017026989.1:c.706-83G>A	XP_016882478.1:n.706-83G>A
XM_017026990.1:c.705+1522G>A	XP_016882479.1:n.705+1522G>A
XM_017026991.1:c.*233G>A	XP_016882480.1:n.*233G>A
NM_030662.4:c.706-83G>A MANE Select	NP_109587.1:n.706-83G>A