Canonical Allele Identifier: CA362714168

Gene: GCNT2

Linked Data

• dbSNP Id: rs1178025976
• gnomAD v2: 6-10556847-T-A
• gnomAD v4: 6-10556614-T-A
• MyVariant Identifiers: chr6:g.10556847T>A (hg19) ; chr6:g.10556614T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10556614T>A , CM000668.2:g.10556614T>A	GRCh38
NC_000006.11:g.10556847T>A , CM000668.1:g.10556847T>A	GRCh37
NC_000006.10:g.10664833T>A	NCBI36
NG_007469.3:g.69392T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316170.9:c.191T>A MANE Plus Clinical	ENSP00000314844.3:p.Leu64Gln
ENST00000397423.7:n.484+27773T>A
ENST00000495262.7:c.925+26778T>A MANE Select	ENSP00000419411.2:n.925+26778T>A
ENST00000640968.1:c.191T>A	ENSP00000492466.1:p.Leu64Gln
ENST00000316170.7:c.191T>A	ENSP00000314844.3:p.Leu64Gln
ENST00000379597.7:c.925+26778T>A	ENSP00000368917.3:n.925+26778T>A
ENST00000397423.6:n.484+27773T>A
ENST00000410107.5:c.67+47456T>A	ENSP00000386321.1:n.67+47456T>A
ENST00000461400.1:n.25+26778T>A
ENST00000474518.1:n.508+27773T>A
ENST00000475577.5:n.254+28954T>A
ENST00000485764.1:n.40+26778T>A
ENST00000489225.5:n.283+63683T>A
ENST00000489819.5:n.175+35020T>A
ENST00000495262.5:c.925+26778T>A	ENSP00000419411.1:n.925+26778T>A
NM_001491.2:c.191T>A	NP_001482.1:p.Leu64Gln
NM_145649.4:c.925+26778T>A	NP_663624.1:n.925+26778T>A
XM_005248997.2:c.191T>A	XP_005249054.1:p.Leu64Gln
XM_005248999.2:c.694+26778T>A	XP_005249056.1:n.694+26778T>A
XM_006715052.2:c.925+26778T>A	XP_006715115.1:n.925+26778T>A
XM_011514465.1:c.926-16516T>A	XP_011512767.1:n.926-16516T>A
XM_011514467.1:c.694+26778T>A	XP_011512769.1:n.694+26778T>A
XR_926136.1:n.1476+26778T>A
XM_005248997.3:c.191T>A	XP_005249054.1:p.Leu64Gln
XM_006715052.3:c.925+26778T>A	XP_006715115.1:n.925+26778T>A
XR_002956275.1:n.1476+26778T>A
XR_926136.2:n.1474+26778T>A
NM_001374747.1:c.925+26778T>A	NP_001361676.1:n.925+26778T>A
NM_001491.3:c.191T>A MANE Plus Clinical	NP_001482.1:p.Leu64Gln
NM_145649.5:c.925+26778T>A MANE Select	NP_663624.1:n.925+26778T>A