Canonical Allele Identifier: CA404237806

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023718055
• gnomAD v4: 19-12647487-C-T
• MyVariant Identifiers: chr19:g.12758301C>T (hg19) ; chr19:g.12647487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647487C>T , CM000681.2:g.12647487C>T	GRCh38
NC_000019.9:g.12758301C>T , CM000681.1:g.12758301C>T	GRCh37
NC_000019.8:g.12619301C>T	NCBI36
NG_008318.1:g.24291G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2776G>A MANE Select	ENSP00000395473.2:p.Asp926Asn
ENST00000221363.8:c.2773G>A	ENSP00000221363.4:p.Asp925Asn
ENST00000456935.6:c.2776G>A	ENSP00000395473.2:p.Asp926Asn
ENST00000466794.5:n.3366G>A
ENST00000469423.1:n.98G>A
ENST00000493218.5:n.187G>A
ENST00000597692.1:c.335G>A
NM_000528.3:c.2776G>A	NP_000519.2:p.Asp926Asn
NM_001173498.1:c.2773G>A	NP_001166969.1:p.Asp925Asn
XM_005259913.1:c.2779G>A	XP_005259970.1:p.Asp927Asn
XM_011528017.1:c.1675G>A	XP_011526319.1:p.Asp559Asn
XM_005259913.2:c.2779G>A	XP_005259970.1:p.Asp927Asn
XM_024451518.1:c.1675G>A	XP_024307286.1:p.Asp559Asn
NM_000528.4:c.2776G>A MANE Select	NP_000519.2:p.Asp926Asn
NM_001173498.2:c.2773G>A	NP_001166969.1:p.Asp925Asn