Canonical Allele Identifier: CA2323498624

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023715382
• gnomAD v4: 19-12647406-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647406C>T , CM000681.2:g.12647406C>T	GRCh38
NC_000019.9:g.12758220C>T , CM000681.1:g.12758220C>T	GRCh37
NC_000019.8:g.12619220C>T	NCBI36
NG_008318.1:g.24372G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2820+37G>A MANE Select	ENSP00000395473.2:n.2820+37G>A
ENST00000221363.8:c.2817+37G>A	ENSP00000221363.4:n.2817+37G>A
ENST00000456935.6:c.2820+37G>A	ENSP00000395473.2:n.2820+37G>A
ENST00000466794.5:n.3410+37G>A
ENST00000469423.1:n.179G>A
ENST00000493218.5:n.231+37G>A
ENST00000597692.1:c.379+37G>A
NM_000528.3:c.2820+37G>A	NP_000519.2:n.2820+37G>A
NM_001173498.1:c.2817+37G>A	NP_001166969.1:n.2817+37G>A
XM_005259913.1:c.2823+37G>A	XP_005259970.1:n.2823+37G>A
XM_011528017.1:c.1719+37G>A	XP_011526319.1:n.1719+37G>A
XM_005259913.2:c.2823+37G>A	XP_005259970.1:n.2823+37G>A
XM_024451518.1:c.1719+37G>A	XP_024307286.1:n.1719+37G>A
NM_000528.4:c.2820+37G>A MANE Select	NP_000519.2:n.2820+37G>A
NM_001173498.2:c.2817+37G>A	NP_001166969.1:n.2817+37G>A