Canonical Allele Identifier: CA9090786

Gene: MAP2K2

Linked Data

• dbSNP Id: rs769948585
• ExAC: 19:4099174 CG / C
• gnomAD v2: 19-4099174-CG-C
• gnomAD v3: 19-4099176-CG-C
• gnomAD v4: 19-4099176-CG-C
• MyVariant Identifiers: chr19:g.4099175del (hg19) ; chr19:g.4099177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099178del , CM000681.2:g.4099178del	GRCh38
NC_000019.9:g.4099176del , CM000681.1:g.4099176del	GRCh37
NC_000019.8:g.4050176del	NCBI36
NG_007996.1:g.29952del , LRG_750:g.29952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1358+24del
ENST00000687128.1:n.1382del
ENST00000688002.1:n.1237del
ENST00000689792.1:n.823+24del
ENST00000262948.10:c.919+24del MANE Select	ENSP00000262948.4:n.919+24del
ENST00000262948.9:c.919+24del	ENSP00000262948.3:n.919+24del
ENST00000394867.8:c.628+24del	ENSP00000378336.1:n.628+24del
ENST00000595715.1:n.734+24del
ENST00000597263.5:n.169+1842del
ENST00000599021.1:c.30-1834del
ENST00000600584.5:n.1479+24del
ENST00000601786.5:n.1220+24del
NM_030662.3:c.919+24del , LRG_750t1:c.919+24del	NP_109587.1:n.919+24del
XM_006722799.2:c.705+1842del	XP_006722862.1:n.705+1842del
XM_011528133.1:c.349+24del	XP_011526435.1:n.349+24del
XM_017026989.1:c.919+24del	XP_016882478.1:n.919+24del
XM_017026990.1:c.705+1842del	XP_016882479.1:n.705+1842del
NM_030662.4:c.919+24del MANE Select	NP_109587.1:n.919+24del