Canonical Allele Identifier: CA9226058

Gene: MAN2B1

Linked Data

• dbSNP Id: rs200525886
• ExAC: 19:12760105 G / T
• gnomAD v2: 19-12760105-G-T
• gnomAD v3: 19-12649291-G-T
• gnomAD v4: 19-12649291-G-T
• MyVariant Identifiers: chr19:g.12760105G>T (hg19) ; chr19:g.12649291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649291G>T , CM000681.2:g.12649291G>T	GRCh38
NC_000019.9:g.12760105G>T , CM000681.1:g.12760105G>T	GRCh37
NC_000019.8:g.12621105G>T	NCBI36
NG_008318.1:g.22487C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2355+50C>A MANE Select	ENSP00000395473.2:n.2355+50C>A
ENST00000221363.8:c.2352+50C>A	ENSP00000221363.4:n.2352+50C>A
ENST00000456935.6:c.2355+50C>A	ENSP00000395473.2:n.2355+50C>A
ENST00000466794.5:n.2945+50C>A
NM_000528.3:c.2355+50C>A	NP_000519.2:n.2355+50C>A
NM_001173498.1:c.2352+50C>A	NP_001166969.1:n.2352+50C>A
XM_005259913.1:c.2358+50C>A	XP_005259970.1:n.2358+50C>A
XM_011528017.1:c.1254+50C>A	XP_011526319.1:n.1254+50C>A
XM_005259913.2:c.2358+50C>A	XP_005259970.1:n.2358+50C>A
XM_024451518.1:c.1254+50C>A	XP_024307286.1:n.1254+50C>A
NM_000528.4:c.2355+50C>A MANE Select	NP_000519.2:n.2355+50C>A
NM_001173498.2:c.2352+50C>A	NP_001166969.1:n.2352+50C>A