Canonical Allele Identifier: CA3631805

Gene: GCNT2

Linked Data

• dbSNP Id: rs767843763
• ExAC: 6:10529830 C / CTTT
• gnomAD v2: 6-10529830-C-CTTT
• MyVariant Identifiers: chr6:g.10529830_10529831insTTT (hg19) ; chr6:g.10529597_10529598insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529598_10529599insTTT , CM000668.2:g.10529598_10529599insTTT	GRCh38
NC_000006.11:g.10529831_10529832insTTT , CM000668.1:g.10529831_10529832insTTT	GRCh37
NC_000006.10:g.10637817_10637818insTTT	NCBI36
NG_007469.3:g.42376_42377insTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000397423.7:n.484+757_484+758insTTT
ENST00000495262.7:c.687_688insTTT MANE Select	ENSP00000419411.2:p.Thr229_Lys230insPhe
ENST00000379597.7:c.687_688insTTT	ENSP00000368917.3:p.Thr229_Lys230insPhe
ENST00000397423.6:n.484+757_484+758insTTT
ENST00000410107.5:c.67+20440_67+20441insTTT	ENSP00000386321.1:n.67+20440_67+20441insT...
ENST00000474518.1:n.508+757_508+758insTTT
ENST00000474983.5:n.1264_1265insTTT
ENST00000475577.5:n.254+1938_254+1939insTTT
ENST00000483204.1:n.1263_1264insTTT
ENST00000489225.5:n.283+36667_283+36668insTTT
ENST00000489819.5:n.175+8004_175+8005insTTT
ENST00000495262.5:c.687_688insTTT	ENSP00000419411.1:p.Thr229_Lys230insPhe
NM_145649.4:c.687_688insTTT	NP_663624.1:p.Thr229_Lys230insPhe
XM_005248999.2:c.456_457insTTT	XP_005249056.1:p.Thr152_Lys153insPhe
XM_006715052.2:c.687_688insTTT	XP_006715115.1:p.Thr229_Lys230insPhe
XM_006715053.2:c.687_688insTTT	XP_006715116.1:p.Thr229_Lys230insPhe
XM_011514465.1:c.687_688insTTT	XP_011512767.1:p.Thr229_Lys230insPhe
XM_011514467.1:c.456_457insTTT	XP_011512769.1:p.Thr152_Lys153insPhe
XM_011514468.1:c.687_688insTTT	XP_011512770.1:p.Thr229_Lys230insPhe
XR_926136.1:n.1238_1239insTTT
XM_006715052.3:c.687_688insTTT	XP_006715115.1:p.Thr229_Lys230insPhe
XM_011514468.3:c.687_688insTTT	XP_011512770.1:p.Thr229_Lys230insPhe
XM_017010732.2:c.687_688insTTT	XP_016866221.1:p.Thr229_Lys230insPhe
XR_002956275.1:n.1238_1239insTTT
XR_926136.2:n.1236_1237insTTT
NM_001374747.1:c.687_688insTTT	NP_001361676.1:p.Thr229_Lys230insPhe
NM_145649.5:c.687_688insTTT MANE Select	NP_663624.1:p.Thr229_Lys230insPhe