Canonical Allele Identifier: CA3631878

Gene: GCNT2

Linked Data

• dbSNP Id: rs751249591
• ExAC: 6:10530082 CTT / C
• gnomAD v2: 6-10530082-CTT-C
• gnomAD v3: 6-10529849-CTT-C
• gnomAD v4: 6-10529849-CTT-C
• MyVariant Identifiers: chr6:g.10530083_10530084del (hg19) ; chr6:g.10529850_10529851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529850_10529851del , CM000668.2:g.10529850_10529851del	GRCh38
NC_000006.11:g.10530083_10530084del , CM000668.1:g.10530083_10530084del	GRCh37
NC_000006.10:g.10638069_10638070del	NCBI36
NG_007469.3:g.42628_42629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+1009_484+1010del
ENST00000495262.7:c.925+14_925+15del MANE Select	ENSP00000419411.2:n.925+14_925+15del
ENST00000379597.7:c.925+14_925+15del	ENSP00000368917.3:n.925+14_925+15del
ENST00000397423.6:n.484+1009_484+1010del
ENST00000410107.5:c.67+20692_67+20693del	ENSP00000386321.1:n.67+20692_67+20693del
ENST00000461400.1:n.25+14_25+15del
ENST00000474518.1:n.508+1009_508+1010del
ENST00000474983.5:n.1516_1517del
ENST00000475577.5:n.254+2190_254+2191del
ENST00000483204.1:n.1515_1516del
ENST00000485764.1:n.40+14_40+15del
ENST00000489225.5:n.283+36919_283+36920del
ENST00000489819.5:n.175+8256_175+8257del
ENST00000495262.5:c.925+14_925+15del	ENSP00000419411.1:n.925+14_925+15del
NM_145649.4:c.925+14_925+15del	NP_663624.1:n.925+14_925+15del
XM_005248999.2:c.694+14_694+15del	XP_005249056.1:n.694+14_694+15del
XM_006715052.2:c.925+14_925+15del	XP_006715115.1:n.925+14_925+15del
XM_006715053.2:c.925+14_925+15del	XP_006715116.1:n.925+14_925+15del
XM_011514465.1:c.925+14_925+15del	XP_011512767.1:n.925+14_925+15del
XM_011514467.1:c.694+14_694+15del	XP_011512769.1:n.694+14_694+15del
XM_011514468.1:c.925+14_925+15del	XP_011512770.1:n.925+14_925+15del
XR_926136.1:n.1476+14_1476+15del
XM_006715052.3:c.925+14_925+15del	XP_006715115.1:n.925+14_925+15del
XM_011514468.3:c.925+14_925+15del	XP_011512770.1:n.925+14_925+15del
XM_017010732.2:c.925+14_925+15del	XP_016866221.1:n.925+14_925+15del
XR_002956275.1:n.1476+14_1476+15del
XR_926136.2:n.1474+14_1474+15del
NM_001374747.1:c.925+14_925+15del	NP_001361676.1:n.925+14_925+15del
NM_145649.5:c.925+14_925+15del MANE Select	NP_663624.1:n.925+14_925+15del