Canonical Allele Identifier: CA362714351

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10556668-T-C
• MyVariant Identifiers: chr6:g.10556901T>C (hg19) ; chr6:g.10556668T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10556668T>C , CM000668.2:g.10556668T>C	GRCh38
NC_000006.11:g.10556901T>C , CM000668.1:g.10556901T>C	GRCh37
NC_000006.10:g.10664887T>C	NCBI36
NG_007469.3:g.69446T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316170.9:c.245T>C MANE Plus Clinical	ENSP00000314844.3:p.Ile82Thr
ENST00000397423.7:n.484+27827T>C
ENST00000495262.7:c.925+26832T>C MANE Select	ENSP00000419411.2:n.925+26832T>C
ENST00000640968.1:c.245T>C	ENSP00000492466.1:p.Ile82Thr
ENST00000316170.7:c.245T>C	ENSP00000314844.3:p.Ile82Thr
ENST00000379597.7:c.925+26832T>C	ENSP00000368917.3:n.925+26832T>C
ENST00000397423.6:n.484+27827T>C
ENST00000410107.5:c.67+47510T>C	ENSP00000386321.1:n.67+47510T>C
ENST00000461400.1:n.25+26832T>C
ENST00000474518.1:n.508+27827T>C
ENST00000475577.5:n.254+29008T>C
ENST00000485764.1:n.40+26832T>C
ENST00000489225.5:n.283+63737T>C
ENST00000489819.5:n.175+35074T>C
ENST00000495262.5:c.925+26832T>C	ENSP00000419411.1:n.925+26832T>C
NM_001491.2:c.245T>C	NP_001482.1:p.Ile82Thr
NM_145649.4:c.925+26832T>C	NP_663624.1:n.925+26832T>C
XM_005248997.2:c.245T>C	XP_005249054.1:p.Ile82Thr
XM_005248999.2:c.694+26832T>C	XP_005249056.1:n.694+26832T>C
XM_006715052.2:c.925+26832T>C	XP_006715115.1:n.925+26832T>C
XM_011514465.1:c.926-16462T>C	XP_011512767.1:n.926-16462T>C
XM_011514467.1:c.694+26832T>C	XP_011512769.1:n.694+26832T>C
XR_926136.1:n.1476+26832T>C
XM_005248997.3:c.245T>C	XP_005249054.1:p.Ile82Thr
XM_006715052.3:c.925+26832T>C	XP_006715115.1:n.925+26832T>C
XR_002956275.1:n.1476+26832T>C
XR_926136.2:n.1474+26832T>C
NM_001374747.1:c.925+26832T>C	NP_001361676.1:n.925+26832T>C
NM_001491.3:c.245T>C MANE Plus Clinical	NP_001482.1:p.Ile82Thr
NM_145649.5:c.925+26832T>C MANE Select	NP_663624.1:n.925+26832T>C