Canonical Allele Identifier: CA2323500180

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023812237
• gnomAD v4: 19-12650290-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650290C>T , CM000681.2:g.12650290C>T	GRCh38
NC_000019.9:g.12761104C>T , CM000681.1:g.12761104C>T	GRCh37
NC_000019.8:g.12622104C>T	NCBI36
NG_008318.1:g.21488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-68G>A MANE Select	ENSP00000395473.2:n.2047-68G>A
ENST00000221363.8:c.2044-68G>A	ENSP00000221363.4:n.2044-68G>A
ENST00000456935.6:c.2047-68G>A	ENSP00000395473.2:n.2047-68G>A
ENST00000466794.5:n.2637-68G>A
NM_000528.3:c.2047-68G>A	NP_000519.2:n.2047-68G>A
NM_001173498.1:c.2044-68G>A	NP_001166969.1:n.2044-68G>A
XM_005259913.1:c.2050-68G>A	XP_005259970.1:n.2050-68G>A
XM_011528017.1:c.946-68G>A	XP_011526319.1:n.946-68G>A
XM_005259913.2:c.2050-68G>A	XP_005259970.1:n.2050-68G>A
XM_024451518.1:c.946-68G>A	XP_024307286.1:n.946-68G>A
NM_000528.4:c.2047-68G>A MANE Select	NP_000519.2:n.2047-68G>A
NM_001173498.2:c.2044-68G>A	NP_001166969.1:n.2044-68G>A