Canonical Allele Identifier: CA2558437551

Gene: MAN2B1

Linked Data

• dbSNP Id: rs899496054
• gnomAD v3: 19-12657261-T-G
• gnomAD v4: 19-12657261-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657261T>G , CM000681.2:g.12657261T>G	GRCh38
NC_000019.9:g.12768075T>G , CM000681.1:g.12768075T>G	GRCh37
NC_000019.8:g.12629075T>G	NCBI36
NG_008318.1:g.14517A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+185A>C MANE Select	ENSP00000395473.2:n.1419+185A>C
ENST00000221363.8:c.1416+185A>C	ENSP00000221363.4:n.1416+185A>C
ENST00000456935.6:c.1419+185A>C	ENSP00000395473.2:n.1419+185A>C
ENST00000466794.5:n.1318+185A>C
ENST00000495617.1:n.595+185A>C
ENST00000593686.1:c.29+185A>C
ENST00000595880.5:n.16+103A>C
NM_000528.3:c.1419+185A>C	NP_000519.2:n.1419+185A>C
NM_001173498.1:c.1416+185A>C	NP_001166969.1:n.1416+185A>C
XM_005259913.1:c.1422+185A>C	XP_005259970.1:n.1422+185A>C
XM_011528017.1:c.318+185A>C	XP_011526319.1:n.318+185A>C
XM_005259913.2:c.1422+185A>C	XP_005259970.1:n.1422+185A>C
XM_024451518.1:c.318+185A>C	XP_024307286.1:n.318+185A>C
NM_000528.4:c.1419+185A>C MANE Select	NP_000519.2:n.1419+185A>C
NM_001173498.2:c.1416+185A>C	NP_001166969.1:n.1416+185A>C