Canonical Allele Identifier: CA305473389

Gene: MAN2B1

Linked Data

• dbSNP Id: rs916739782
• gnomAD v4: 19-12660976-C-T
• MyVariant Identifiers: chr19:g.12771790C>T (hg19) ; chr19:g.12660976C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12660976C>T , CM000681.2:g.12660976C>T	GRCh38
NC_000019.9:g.12771790C>T , CM000681.1:g.12771790C>T	GRCh37
NC_000019.8:g.12632790C>T	NCBI36
NG_008318.1:g.10802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1026+284G>A MANE Select	ENSP00000395473.2:n.1026+284G>A
ENST00000221363.8:c.1026+284G>A	ENSP00000221363.4:n.1026+284G>A
ENST00000456935.6:c.1026+284G>A	ENSP00000395473.2:n.1026+284G>A
ENST00000462144.1:n.503G>A
ENST00000466794.5:n.1008+284G>A
NM_000528.3:c.1026+284G>A	NP_000519.2:n.1026+284G>A
NM_001173498.1:c.1026+284G>A	NP_001166969.1:n.1026+284G>A
XM_005259913.1:c.1026+284G>A	XP_005259970.1:n.1026+284G>A
XM_011528017.1:c.8+284G>A	XP_011526319.1:n.8+284G>A
XM_005259913.2:c.1026+284G>A	XP_005259970.1:n.1026+284G>A
XM_024451518.1:c.8+284G>A	XP_024307286.1:n.8+284G>A
NM_000528.4:c.1026+284G>A MANE Select	NP_000519.2:n.1026+284G>A
NM_001173498.2:c.1026+284G>A	NP_001166969.1:n.1026+284G>A