Canonical Allele Identifier: CA6564902

Gene: DIP2B

Linked Data

• ClinVar Variation Id: 285890
• ClinVar RCV Id: RCV000360615 ; RCV003909979
• dbSNP Id: rs151181050
• ExAC: 12:51108283 C / A
• gnomAD v2: 12-51108283-C-A
• gnomAD v3: 12-50714500-C-A
• gnomAD v4: 12-50714500-C-A
• MyVariant Identifiers: chr12:g.51108283C>A (hg19) ; chr12:g.50714500C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50714500C>A , CM000674.2:g.50714500C>A	GRCh38
NC_000012.11:g.51108283C>A , CM000674.1:g.51108283C>A	GRCh37
NC_000012.10:g.49394550C>A	NCBI36
NG_021196.1:g.214516C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301180.10:c.2755C>A MANE Select	ENSP00000301180.5:p.Gln919Lys
ENST00000301180.9:c.2755C>A	ENSP00000301180.5:p.Gln919Lys
ENST00000546732.1:c.1282C>A
NM_173602.2:c.2755C>A	NP_775873.2:p.Gln919Lys
XM_005269044.1:c.2758C>A	XP_005269101.1:p.Gln920Lys
XM_006719520.2:c.2785C>A	XP_006719583.1:p.Gln929Lys
XM_006719521.2:c.2572C>A	XP_006719584.1:p.Gln858Lys
XM_006719522.2:c.2404C>A	XP_006719585.1:p.Gln802Lys
XM_011538594.1:c.2788C>A	XP_011536896.1:p.Gln930Lys
XM_011538595.1:c.2620C>A	XP_011536897.1:p.Gln874Lys
XM_011538596.1:c.2575C>A	XP_011536898.1:p.Gln859Lys
NM_173602.3:c.2755C>A MANE Select	NP_775873.2:p.Gln919Lys