Canonical Allele Identifier: CA9226720

Gene: MAN2B1

Linked Data

• dbSNP Id: rs780156539
• ExAC: 19:12774519 G / A
• gnomAD v2: 19-12774519-G-A
• gnomAD v4: 19-12663705-G-A
• MyVariant Identifiers: chr19:g.12774519G>A (hg19) ; chr19:g.12663705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663705G>A , CM000681.2:g.12663705G>A	GRCh38
NC_000019.9:g.12774519G>A , CM000681.1:g.12774519G>A	GRCh37
NC_000019.8:g.12635519G>A	NCBI36
NG_008318.1:g.8073C>T
NG_015814.1:g.1902G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.761C>T MANE Select	ENSP00000395473.2:p.Thr254Ile
ENST00000221363.8:c.761C>T	ENSP00000221363.4:p.Thr254Ile
ENST00000456935.6:c.761C>T	ENSP00000395473.2:p.Thr254Ile
ENST00000466794.5:n.743C>T
ENST00000486847.2:c.464C>T	ENSP00000470174.1:p.Thr155Ile
NM_000528.3:c.761C>T	NP_000519.2:p.Thr254Ile
NM_001173498.1:c.761C>T	NP_001166969.1:p.Thr254Ile
XM_005259913.1:c.761C>T	XP_005259970.1:p.Thr254Ile
XM_005259913.2:c.761C>T	XP_005259970.1:p.Thr254Ile
XM_024451518.1:c.-258C>T	XP_024307286.1:n.-258C>T
NM_000528.4:c.761C>T MANE Select	NP_000519.2:p.Thr254Ile
NM_001173498.2:c.761C>T	NP_001166969.1:p.Thr254Ile