Canonical Allele Identifier: CA5621713

Gene: CC2D2B ENTPD1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95927261T>C , CM000672.2:g.95927261T>C	GRCh38
NC_000010.10:g.97687018T>C , CM000672.1:g.97687018T>C	GRCh37
NC_000010.9:g.97677008T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001349008.3:c.265T>C (CC2D2B) MANE Select	NP_001335937.1:p.Leu89=
ENST00000646931.3:c.265T>C (CC2D2B) MANE Select	ENSP00000496666.2:p.Leu89=
NM_001130446.2:c.241T>C	NP_001123918.2:p.Leu81=
NM_001130446.3:c.241T>C (CC2D2B)	NP_001123918.2:p.Leu81=
NM_001349008.2:c.265T>C (CC2D2B)	NP_001335937.1:p.Leu89=
NR_038444.1:n.297-50601A>G (ENTPD1-AS1)
ENST00000423344.6:c.241T>C	ENSP00000411850.2:p.Leu81=
ENST00000618242.1:c.241T>C	ENSP00000480092.1:p.Leu81=
ENST00000636965.1:c.241T>C (CC2D2B)	ENSP00000490447.1:p.Leu81=
XM_011539789.3:c.240+2417T>C (CC2D2B)	XP_011538091.2:n.240+2417T>C
XM_024447995.1:c.265T>C (CC2D2B)	XP_024303763.1:p.Leu89=
XM_024447996.1:c.241T>C (CC2D2B)	XP_024303764.1:p.Leu81=
XM_024447997.1:c.241T>C (CC2D2B)	XP_024303765.1:p.Leu81=
XM_024447998.1:c.265T>C (CC2D2B)	XP_024303766.1:p.Leu89=
XM_024447999.1:c.265T>C (CC2D2B)	XP_024303767.1:p.Leu89=
XM_024448000.1:c.265T>C (CC2D2B)	XP_024303768.1:p.Leu89=
XM_024448001.1:c.265T>C (CC2D2B)	XP_024303769.1:p.Leu89=
XM_024448002.1:c.265T>C (CC2D2B)	XP_024303770.1:p.Leu89=
XM_024448003.1:c.265T>C (CC2D2B)	XP_024303771.1:p.Leu89=
XM_024448004.1:c.265T>C (CC2D2B)	XP_024303772.1:p.Leu89=
XM_024448005.1:c.265T>C (CC2D2B)	XP_024303773.1:p.Leu89=
XM_024448006.1:c.265T>C (CC2D2B)	XP_024303774.1:p.Leu89=
XR_002956977.1:n.378T>C (CC2D2B)
XR_002956978.1:n.378T>C (CC2D2B)
XR_002956979.1:n.378T>C (CC2D2B)
XR_002956980.1:n.378T>C (CC2D2B)