Canonical Allele Identifier: CA631832300

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1422406161
• gnomAD v2: 19-12758030-C-T
• gnomAD v4: 19-12647216-C-T
• MyVariant Identifiers: chr19:g.12758030C>T (hg19) ; chr19:g.12647216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647216C>T , CM000681.2:g.12647216C>T	GRCh38
NC_000019.9:g.12758030C>T , CM000681.1:g.12758030C>T	GRCh37
NC_000019.8:g.12619030C>T	NCBI36
NG_008318.1:g.24562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2923+17G>A MANE Select	ENSP00000395473.2:n.2923+17G>A
ENST00000221363.8:c.2920+17G>A	ENSP00000221363.4:n.2920+17G>A
ENST00000456935.6:c.2923+17G>A	ENSP00000395473.2:n.2923+17G>A
ENST00000466794.5:n.3513+17G>A
ENST00000469423.1:n.352+17G>A
ENST00000493218.5:n.334+17G>A
ENST00000597692.1:c.482+17G>A
NM_000528.3:c.2923+17G>A	NP_000519.2:n.2923+17G>A
NM_001173498.1:c.2920+17G>A	NP_001166969.1:n.2920+17G>A
XM_005259913.1:c.2926+17G>A	XP_005259970.1:n.2926+17G>A
XM_011528017.1:c.1822+17G>A	XP_011526319.1:n.1822+17G>A
XM_005259913.2:c.2926+17G>A	XP_005259970.1:n.2926+17G>A
XM_024451518.1:c.1822+17G>A	XP_024307286.1:n.1822+17G>A
NM_000528.4:c.2923+17G>A MANE Select	NP_000519.2:n.2923+17G>A
NM_001173498.2:c.2920+17G>A	NP_001166969.1:n.2920+17G>A