Canonical Allele Identifier: CA344928693

Gene: B3GALNT2

Linked Data

• gnomAD v4: 1-235489248-A-G
• MyVariant Identifiers: chr1:g.235652553A>G (hg19) ; chr1:g.235489248A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489248A>G , CM000663.2:g.235489248A>G	GRCh38
NC_000001.10:g.235652553A>G , CM000663.1:g.235652553A>G	GRCh37
NC_000001.9:g.233719176A>G	NCBI36
NG_033219.2:g.20234T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.281T>C MANE Select	ENSP00000355559.3:p.Ile94Thr
ENST00000675193.1:c.404T>C	ENSP00000502069.1:p.Ile135Thr
ENST00000675555.1:c.59T>C	ENSP00000501896.1:p.Ile20Thr
ENST00000676288.1:c.404T>C	ENSP00000502392.1:p.Ile135Thr
ENST00000313984.3:c.404T>C	ENSP00000315678.3:p.Ile135Thr
ENST00000366600.7:c.281T>C	ENSP00000355559.3:p.Ile94Thr
ENST00000494378.1:n.434-4733T>C
ENST00000612859.4:c.261-4733T>C	ENSP00000481548.1:n.261-4733T>C
NM_001277155.2:c.404T>C	NP_001264084.1:p.Ile135Thr
NM_152490.4:c.281T>C	NP_689703.1:p.Ile94Thr
XM_005273071.3:c.281T>C	XP_005273128.1:p.Ile94Thr
XM_006711749.2:c.281T>C	XP_006711812.1:p.Ile94Thr
XM_011544096.1:c.281T>C	XP_011542398.1:p.Ile94Thr
XM_011544097.1:c.281T>C	XP_011542399.1:p.Ile94Thr
XM_006711749.3:c.281T>C	XP_006711812.1:p.Ile94Thr
XM_017000394.1:c.404T>C	XP_016855883.1:p.Ile135Thr
XM_017000395.1:c.404T>C	XP_016855884.1:p.Ile135Thr
XR_001736987.1:n.569T>C
XR_001736988.1:n.569T>C
XR_001736989.1:n.569T>C
XR_001736990.1:n.452T>C
NM_152490.5:c.281T>C MANE Select	NP_689703.1:p.Ile94Thr
NM_001277155.3:c.404T>C	NP_001264084.1:p.Ile135Thr