Canonical Allele Identifier: CA2582722068

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12663583-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663583A>G , CM000681.2:g.12663583A>G	GRCh38
NC_000019.9:g.12774397A>G , CM000681.1:g.12774397A>G	GRCh37
NC_000019.8:g.12635397A>G	NCBI36
NG_008318.1:g.8195T>C
NG_015814.1:g.1780A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.764-121T>C MANE Select	ENSP00000395473.2:n.764-121T>C
ENST00000221363.8:c.764-121T>C	ENSP00000221363.4:n.764-121T>C
ENST00000456935.6:c.764-121T>C	ENSP00000395473.2:n.764-121T>C
ENST00000466794.5:n.746-121T>C
ENST00000486847.2:c.467-121T>C	ENSP00000470174.1:n.467-121T>C
NM_000528.3:c.764-121T>C	NP_000519.2:n.764-121T>C
NM_001173498.1:c.764-121T>C	NP_001166969.1:n.764-121T>C
XM_005259913.1:c.764-121T>C	XP_005259970.1:n.764-121T>C
XM_005259913.2:c.764-121T>C	XP_005259970.1:n.764-121T>C
XM_024451518.1:c.-255-121T>C	XP_024307286.1:n.-255-121T>C
NM_000528.4:c.764-121T>C MANE Select	NP_000519.2:n.764-121T>C
NM_001173498.2:c.764-121T>C	NP_001166969.1:n.764-121T>C