Canonical Allele Identifier: CA565380657

Gene: GCNT2

Linked Data

• dbSNP Id: rs1169660075
• gnomAD v2: 6-10530069-G-GGTAT
• gnomAD v3: 6-10529836-G-GGTAT
• gnomAD v4: 6-10529836-G-GGTAT
• MyVariant Identifiers: chr6:g.10530069_10530070insGTAT (hg19) ; chr6:g.10529836_10529837insGTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529840_10529843dup , CM000668.2:g.10529840_10529843dup	GRCh38
NC_000006.11:g.10530073_10530076dup , CM000668.1:g.10530073_10530076dup	GRCh37
NC_000006.10:g.10638059_10638062dup	NCBI36
NG_007469.3:g.42618_42621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+999_484+1002dup
ENST00000495262.7:c.925+4_925+7dup MANE Select	ENSP00000419411.2:n.925+4_925+7dup
ENST00000379597.7:c.925+4_925+7dup	ENSP00000368917.3:n.925+4_925+7dup
ENST00000397423.6:n.484+999_484+1002dup
ENST00000410107.5:c.67+20682_67+20685dup	ENSP00000386321.1:n.67+20682_67+20685dup
ENST00000461400.1:n.25+4_25+7dup
ENST00000474518.1:n.508+999_508+1002dup
ENST00000474983.5:n.1506_1509dup
ENST00000475577.5:n.254+2180_254+2183dup
ENST00000483204.1:n.1505_1508dup
ENST00000485764.1:n.40+4_40+7dup
ENST00000489225.5:n.283+36909_283+36912dup
ENST00000489819.5:n.175+8246_175+8249dup
ENST00000495262.5:c.925+4_925+7dup	ENSP00000419411.1:n.925+4_925+7dup
NM_145649.4:c.925+4_925+7dup	NP_663624.1:n.925+4_925+7dup
XM_005248999.2:c.694+4_694+7dup	XP_005249056.1:n.694+4_694+7dup
XM_006715052.2:c.925+4_925+7dup	XP_006715115.1:n.925+4_925+7dup
XM_006715053.2:c.925+4_925+7dup	XP_006715116.1:n.925+4_925+7dup
XM_011514465.1:c.925+4_925+7dup	XP_011512767.1:n.925+4_925+7dup
XM_011514467.1:c.694+4_694+7dup	XP_011512769.1:n.694+4_694+7dup
XM_011514468.1:c.925+4_925+7dup	XP_011512770.1:n.925+4_925+7dup
XR_926136.1:n.1476+4_1476+7dup
XM_006715052.3:c.925+4_925+7dup	XP_006715115.1:n.925+4_925+7dup
XM_011514468.3:c.925+4_925+7dup	XP_011512770.1:n.925+4_925+7dup
XM_017010732.2:c.925+4_925+7dup	XP_016866221.1:n.925+4_925+7dup
XR_002956275.1:n.1476+4_1476+7dup
XR_926136.2:n.1474+4_1474+7dup
NM_001374747.1:c.925+4_925+7dup	NP_001361676.1:n.925+4_925+7dup
NM_145649.5:c.925+4_925+7dup MANE Select	NP_663624.1:n.925+4_925+7dup