Canonical Allele Identifier: CA362709141
Gene: GCNT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10529687T>C , CM000668.2:g.10529687T>C GRCh38
NC_000006.11:g.10529920T>C , CM000668.1:g.10529920T>C GRCh37
NC_000006.10:g.10637906T>C NCBI36
NG_007469.3:g.42465T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397423.7:n.484+846T>C
ENST00000495262.7:c.776T>C MANE Select ENSP00000419411.2:p.Val259Ala
ENST00000379597.7:c.776T>C ENSP00000368917.3:p.Val259Ala
ENST00000397423.6:n.484+846T>C
ENST00000410107.5:c.67+20529T>C ENSP00000386321.1:n.67+20529T>C
ENST00000474518.1:n.508+846T>C
ENST00000474983.5:n.1353T>C
ENST00000475577.5:n.254+2027T>C
ENST00000483204.1:n.1352T>C
ENST00000489225.5:n.283+36756T>C
ENST00000489819.5:n.175+8093T>C
ENST00000495262.5:c.776T>C ENSP00000419411.1:p.Val259Ala
NM_145649.4:c.776T>C NP_663624.1:p.Val259Ala
XM_005248999.2:c.545T>C XP_005249056.1:p.Val182Ala
XM_006715052.2:c.776T>C XP_006715115.1:p.Val259Ala
XM_006715053.2:c.776T>C XP_006715116.1:p.Val259Ala
XM_011514465.1:c.776T>C XP_011512767.1:p.Val259Ala
XM_011514467.1:c.545T>C XP_011512769.1:p.Val182Ala
XM_011514468.1:c.776T>C XP_011512770.1:p.Val259Ala
XR_926136.1:n.1327T>C
XM_006715052.3:c.776T>C XP_006715115.1:p.Val259Ala
XM_011514468.3:c.776T>C XP_011512770.1:p.Val259Ala
XM_017010732.2:c.776T>C XP_016866221.1:p.Val259Ala
XR_002956275.1:n.1327T>C
XR_926136.2:n.1325T>C
NM_001374747.1:c.776T>C NP_001361676.1:p.Val259Ala
NM_145649.5:c.776T>C MANE Select NP_663624.1:p.Val259Ala