Canonical Allele Identifier: CA3632232

Gene: GCNT2

Linked Data

• ClinVar Variation Id: 701963
• ClinVar RCV Id: RCV000870741 ; RCV002292591
• dbSNP Id: rs56106312
• ExAC: 6:10586727 G / A
• gnomAD v2: 6-10586727-G-A
• gnomAD v3: 6-10586494-G-A
• gnomAD v4: 6-10586494-G-A
• MyVariant Identifiers: chr6:g.10586727G>A (hg19) ; chr6:g.10586494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10586494G>A , CM000668.2:g.10586494G>A	GRCh38
NC_000006.11:g.10586727G>A , CM000668.1:g.10586727G>A	GRCh37
NC_000006.10:g.10694713G>A	NCBI36
NG_007469.3:g.99272G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265012.5:c.505G>A	ENSP00000265012.4:p.Ala169Thr
ENST00000316170.9:c.919+29152G>A MANE Plus Clinical	ENSP00000314844.3:n.919+29152G>A
ENST00000397423.7:n.485-34857G>A
ENST00000495262.7:c.926-34857G>A MANE Select	ENSP00000419411.2:n.926-34857G>A
ENST00000265012.4:c.505G>A	ENSP00000265012.4:p.Ala169Thr
ENST00000316170.7:c.919+29152G>A	ENSP00000314844.3:n.919+29152G>A
ENST00000379597.7:c.926-34857G>A	ENSP00000368917.3:n.926-34857G>A
ENST00000397423.6:n.485-34857G>A
ENST00000410107.5:c.68-34857G>A	ENSP00000386321.1:n.68-34857G>A
ENST00000459872.1:n.542+29152G>A
ENST00000461400.1:n.26-34857G>A
ENST00000474518.1:n.509-34857G>A
ENST00000475577.5:n.255-34857G>A
ENST00000485764.1:n.41-32711G>A
ENST00000489225.5:n.284-34857G>A
ENST00000489819.5:n.176-34857G>A
ENST00000495262.5:c.926-34857G>A	ENSP00000419411.1:n.926-34857G>A
NM_001491.2:c.919+29152G>A	NP_001482.1:n.919+29152G>A
NM_145649.4:c.926-34857G>A	NP_663624.1:n.926-34857G>A
NM_145655.3:c.505G>A	NP_663630.2:p.Ala169Thr
XM_005248999.2:c.695-34857G>A	XP_005249056.1:n.695-34857G>A
XM_006715052.2:c.926-34857G>A	XP_006715115.1:n.926-34857G>A
XM_011514466.1:c.505G>A	XP_011512768.1:p.Ala169Thr
XM_011514467.1:c.695-34857G>A	XP_011512769.1:n.695-34857G>A
XR_926136.1:n.1477-33371G>A
XR_926137.1:n.1179G>A
XR_926138.1:n.1179G>A
XM_006715052.3:c.926-34857G>A	XP_006715115.1:n.926-34857G>A
XR_002956275.1:n.1477-14831G>A
XR_926136.2:n.1475-33371G>A
NM_001374747.1:c.926-34857G>A	NP_001361676.1:n.926-34857G>A
NM_001491.3:c.919+29152G>A MANE Plus Clinical	NP_001482.1:n.919+29152G>A
NM_145649.5:c.926-34857G>A MANE Select	NP_663624.1:n.926-34857G>A
NM_145655.4:c.505G>A	NP_663630.2:p.Ala169Thr