Canonical Allele Identifier: CA2323504031

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1599351316
• gnomAD v4: 19-12657886-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657886T>G , CM000681.2:g.12657886T>G	GRCh38
NC_000019.9:g.12768700T>G , CM000681.1:g.12768700T>G	GRCh37
NC_000019.8:g.12629700T>G	NCBI36
NG_008318.1:g.13892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+177A>C MANE Select	ENSP00000395473.2:n.1309+177A>C
ENST00000221363.8:c.1306+177A>C	ENSP00000221363.4:n.1306+177A>C
ENST00000456935.6:c.1309+177A>C	ENSP00000395473.2:n.1309+177A>C
ENST00000465830.1:n.473+177A>C
ENST00000466794.5:n.1208+177A>C
ENST00000495617.1:n.281-126A>C
NM_000528.3:c.1309+177A>C	NP_000519.2:n.1309+177A>C
NM_001173498.1:c.1306+177A>C	NP_001166969.1:n.1306+177A>C
XM_005259913.1:c.1312+177A>C	XP_005259970.1:n.1312+177A>C
XM_011528017.1:c.208+177A>C	XP_011526319.1:n.208+177A>C
XM_005259913.2:c.1312+177A>C	XP_005259970.1:n.1312+177A>C
XM_024451518.1:c.208+177A>C	XP_024307286.1:n.208+177A>C
NM_000528.4:c.1309+177A>C MANE Select	NP_000519.2:n.1309+177A>C
NM_001173498.2:c.1306+177A>C	NP_001166969.1:n.1306+177A>C