Canonical Allele Identifier: CA362714233

Gene: GCNT2

Linked Data

• dbSNP Id: rs1581400576
• MyVariant Identifiers: chr6:g.10556875G>C (hg19) ; chr6:g.10556642G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10556642G>C , CM000668.2:g.10556642G>C	GRCh38
NC_000006.11:g.10556875G>C , CM000668.1:g.10556875G>C	GRCh37
NC_000006.10:g.10664861G>C	NCBI36
NG_007469.3:g.69420G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316170.9:c.219G>C MANE Plus Clinical	ENSP00000314844.3:p.Lys73Asn
ENST00000397423.7:n.484+27801G>C
ENST00000495262.7:c.925+26806G>C MANE Select	ENSP00000419411.2:n.925+26806G>C
ENST00000640968.1:c.219G>C	ENSP00000492466.1:p.Lys73Asn
ENST00000316170.7:c.219G>C	ENSP00000314844.3:p.Lys73Asn
ENST00000379597.7:c.925+26806G>C	ENSP00000368917.3:n.925+26806G>C
ENST00000397423.6:n.484+27801G>C
ENST00000410107.5:c.67+47484G>C	ENSP00000386321.1:n.67+47484G>C
ENST00000461400.1:n.25+26806G>C
ENST00000474518.1:n.508+27801G>C
ENST00000475577.5:n.254+28982G>C
ENST00000485764.1:n.40+26806G>C
ENST00000489225.5:n.283+63711G>C
ENST00000489819.5:n.175+35048G>C
ENST00000495262.5:c.925+26806G>C	ENSP00000419411.1:n.925+26806G>C
NM_001491.2:c.219G>C	NP_001482.1:p.Lys73Asn
NM_145649.4:c.925+26806G>C	NP_663624.1:n.925+26806G>C
XM_005248997.2:c.219G>C	XP_005249054.1:p.Lys73Asn
XM_005248999.2:c.694+26806G>C	XP_005249056.1:n.694+26806G>C
XM_006715052.2:c.925+26806G>C	XP_006715115.1:n.925+26806G>C
XM_011514465.1:c.926-16488G>C	XP_011512767.1:n.926-16488G>C
XM_011514467.1:c.694+26806G>C	XP_011512769.1:n.694+26806G>C
XR_926136.1:n.1476+26806G>C
XM_005248997.3:c.219G>C	XP_005249054.1:p.Lys73Asn
XM_006715052.3:c.925+26806G>C	XP_006715115.1:n.925+26806G>C
XR_002956275.1:n.1476+26806G>C
XR_926136.2:n.1474+26806G>C
NM_001374747.1:c.925+26806G>C	NP_001361676.1:n.925+26806G>C
NM_001491.3:c.219G>C MANE Plus Clinical	NP_001482.1:p.Lys73Asn
NM_145649.5:c.925+26806G>C MANE Select	NP_663624.1:n.925+26806G>C