Canonical Allele Identifier: CA2582722703

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665700-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665700C>G , CM000681.2:g.12665700C>G	GRCh38
NC_000019.9:g.12776514C>G , CM000681.1:g.12776514C>G	GRCh37
NC_000019.8:g.12637514C>G	NCBI36
NG_008318.1:g.6078G>C
NG_015814.1:g.3897C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.262+3G>C MANE Select	ENSP00000395473.2:n.262+3G>C
ENST00000221363.8:c.262+3G>C	ENSP00000221363.4:n.262+3G>C
ENST00000456935.6:c.262+3G>C	ENSP00000395473.2:n.262+3G>C
ENST00000466794.5:n.244+3G>C
ENST00000486847.2:c.160-175G>C	ENSP00000470174.1:n.160-175G>C
ENST00000596512.5:n.201-175G>C
ENST00000597961.1:c.253+3G>C	ENSP00000472710.1:n.253+3G>C
ENST00000598876.1:c.289+3G>C	ENSP00000470533.1:n.289+3G>C
ENST00000600281.1:n.303+3G>C
NM_000528.3:c.262+3G>C	NP_000519.2:n.262+3G>C
NM_001173498.1:c.262+3G>C	NP_001166969.1:n.262+3G>C
XM_005259913.1:c.262+3G>C	XP_005259970.1:n.262+3G>C
XM_005259913.2:c.262+3G>C	XP_005259970.1:n.262+3G>C
XM_024451518.1:c.-757+3G>C	XP_024307286.1:n.-757+3G>C
NM_000528.4:c.262+3G>C MANE Select	NP_000519.2:n.262+3G>C
NM_001173498.2:c.262+3G>C	NP_001166969.1:n.262+3G>C