Canonical Allele Identifier: CA384836418

Gene: DIP2B

Linked Data

• MyVariant Identifiers: chr12:g.51072542T>A (hg19) ; chr12:g.50678759T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50678759T>A , CM000674.2:g.50678759T>A	GRCh38
NC_000012.11:g.51072542T>A , CM000674.1:g.51072542T>A	GRCh37
NC_000012.10:g.49358809T>A	NCBI36
NG_021196.1:g.178775T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301180.10:c.997T>A MANE Select	ENSP00000301180.5:p.Cys333Ser
ENST00000301180.9:c.997T>A	ENSP00000301180.5:p.Cys333Ser
ENST00000546719.1:n.774T>A
ENST00000549620.5:n.1153T>A
NM_173602.2:c.997T>A	NP_775873.2:p.Cys333Ser
XM_005269044.1:c.1000T>A	XP_005269101.1:p.Cys334Ser
XM_006719520.2:c.1027T>A	XP_006719583.1:p.Cys343Ser
XM_006719521.2:c.814T>A	XP_006719584.1:p.Cys272Ser
XM_006719522.2:c.646T>A	XP_006719585.1:p.Cys216Ser
XM_011538594.1:c.1030T>A	XP_011536896.1:p.Cys344Ser
XM_011538595.1:c.1030T>A	XP_011536897.1:p.Cys344Ser
XM_011538596.1:c.817T>A	XP_011536898.1:p.Cys273Ser
NM_173602.3:c.997T>A MANE Select	NP_775873.2:p.Cys333Ser