Canonical Allele Identifier: CA344928893

Gene: B3GALNT2

Linked Data

• MyVariant Identifiers: chr1:g.235652572C>A (hg19) ; chr1:g.235489267C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489267C>A , CM000663.2:g.235489267C>A	GRCh38
NC_000001.10:g.235652572C>A , CM000663.1:g.235652572C>A	GRCh37
NC_000001.9:g.233719195C>A	NCBI36
NG_033219.2:g.20215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.262G>T MANE Select	ENSP00000355559.3:p.Val88Leu
ENST00000675193.1:c.385G>T	ENSP00000502069.1:p.Val129Leu
ENST00000675555.1:c.40G>T	ENSP00000501896.1:p.Val14Leu
ENST00000676288.1:c.385G>T	ENSP00000502392.1:p.Val129Leu
ENST00000313984.3:c.385G>T	ENSP00000315678.3:p.Val129Leu
ENST00000366600.7:c.262G>T	ENSP00000355559.3:p.Val88Leu
ENST00000494378.1:n.434-4752G>T
ENST00000612859.4:c.261-4752G>T	ENSP00000481548.1:n.261-4752G>T
NM_001277155.2:c.385G>T	NP_001264084.1:p.Val129Leu
NM_152490.4:c.262G>T	NP_689703.1:p.Val88Leu
XM_005273071.3:c.262G>T	XP_005273128.1:p.Val88Leu
XM_006711749.2:c.262G>T	XP_006711812.1:p.Val88Leu
XM_011544096.1:c.262G>T	XP_011542398.1:p.Val88Leu
XM_011544097.1:c.262G>T	XP_011542399.1:p.Val88Leu
XM_006711749.3:c.262G>T	XP_006711812.1:p.Val88Leu
XM_017000394.1:c.385G>T	XP_016855883.1:p.Val129Leu
XM_017000395.1:c.385G>T	XP_016855884.1:p.Val129Leu
XR_001736987.1:n.550G>T
XR_001736988.1:n.550G>T
XR_001736989.1:n.550G>T
XR_001736990.1:n.433G>T
NM_152490.5:c.262G>T MANE Select	NP_689703.1:p.Val88Leu
NM_001277155.3:c.385G>T	NP_001264084.1:p.Val129Leu