Canonical Allele Identifier: CA2323503425

Gene: MAN2B1

Linked Data

• dbSNP Id: rs961104758

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656916T>G , CM000681.2:g.12656916T>G	GRCh38
NC_000019.9:g.12767730T>G , CM000681.1:g.12767730T>G	GRCh37
NC_000019.8:g.12628730T>G	NCBI36
NG_008318.1:g.14862A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1527+33A>C MANE Select	ENSP00000395473.2:n.1527+33A>C
ENST00000221363.8:c.1524+33A>C	ENSP00000221363.4:n.1524+33A>C
ENST00000433513.5:n.133+33A>C
ENST00000456935.6:c.1527+33A>C	ENSP00000395473.2:n.1527+33A>C
ENST00000466794.5:n.1426+33A>C
ENST00000495617.1:n.703+33A>C
ENST00000593686.1:c.137+33A>C
ENST00000595880.5:n.124+33A>C
NM_000528.3:c.1527+33A>C	NP_000519.2:n.1527+33A>C
NM_001173498.1:c.1524+33A>C	NP_001166969.1:n.1524+33A>C
XM_005259913.1:c.1530+33A>C	XP_005259970.1:n.1530+33A>C
XM_011528017.1:c.426+33A>C	XP_011526319.1:n.426+33A>C
XM_005259913.2:c.1530+33A>C	XP_005259970.1:n.1530+33A>C
XM_024451518.1:c.426+33A>C	XP_024307286.1:n.426+33A>C
NM_000528.4:c.1527+33A>C MANE Select	NP_000519.2:n.1527+33A>C
NM_001173498.2:c.1524+33A>C	NP_001166969.1:n.1524+33A>C