Canonical Allele Identifier: CA362707723

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529342-T-C
• MyVariant Identifiers: chr6:g.10529575T>C (hg19) ; chr6:g.10529342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529342T>C , CM000668.2:g.10529342T>C	GRCh38
NC_000006.11:g.10529575T>C , CM000668.1:g.10529575T>C	GRCh37
NC_000006.10:g.10637561T>C	NCBI36
NG_007469.3:g.42120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+501T>C
ENST00000495262.7:c.431T>C MANE Select	ENSP00000419411.2:p.Leu144Pro
ENST00000379597.7:c.431T>C	ENSP00000368917.3:p.Leu144Pro
ENST00000397423.6:n.484+501T>C
ENST00000410107.5:c.67+20184T>C	ENSP00000386321.1:n.67+20184T>C
ENST00000474518.1:n.508+501T>C
ENST00000474983.5:n.1008T>C
ENST00000475577.5:n.254+1682T>C
ENST00000483204.1:n.1007T>C
ENST00000489225.5:n.283+36411T>C
ENST00000489819.5:n.175+7748T>C
ENST00000495262.5:c.431T>C	ENSP00000419411.1:p.Leu144Pro
NM_145649.4:c.431T>C	NP_663624.1:p.Leu144Pro
XM_005248999.2:c.200T>C	XP_005249056.1:p.Leu67Pro
XM_006715052.2:c.431T>C	XP_006715115.1:p.Leu144Pro
XM_006715053.2:c.431T>C	XP_006715116.1:p.Leu144Pro
XM_011514465.1:c.431T>C	XP_011512767.1:p.Leu144Pro
XM_011514467.1:c.200T>C	XP_011512769.1:p.Leu67Pro
XM_011514468.1:c.431T>C	XP_011512770.1:p.Leu144Pro
XR_926136.1:n.982T>C
XM_006715052.3:c.431T>C	XP_006715115.1:p.Leu144Pro
XM_011514468.3:c.431T>C	XP_011512770.1:p.Leu144Pro
XM_017010732.2:c.431T>C	XP_016866221.1:p.Leu144Pro
XR_002956275.1:n.982T>C
XR_926136.2:n.980T>C
NM_001374747.1:c.431T>C	NP_001361676.1:p.Leu144Pro
NM_145649.5:c.431T>C MANE Select	NP_663624.1:p.Leu144Pro