Canonical Allele Identifier: CA404246079

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12656953-G-A
• MyVariant Identifiers: chr19:g.12767767G>A (hg19) ; chr19:g.12656953G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656953G>A , CM000681.2:g.12656953G>A	GRCh38
NC_000019.9:g.12767767G>A , CM000681.1:g.12767767G>A	GRCh37
NC_000019.8:g.12628767G>A	NCBI36
NG_008318.1:g.14825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1523C>T MANE Select	ENSP00000395473.2:p.Ala508Val
ENST00000221363.8:c.1520C>T	ENSP00000221363.4:p.Ala507Val
ENST00000433513.5:n.129C>T
ENST00000456935.6:c.1523C>T	ENSP00000395473.2:p.Ala508Val
ENST00000466794.5:n.1422C>T
ENST00000495617.1:n.699C>T
ENST00000593686.1:c.133C>T
ENST00000595880.5:n.120C>T
NM_000528.3:c.1523C>T	NP_000519.2:p.Ala508Val
NM_001173498.1:c.1520C>T	NP_001166969.1:p.Ala507Val
XM_005259913.1:c.1526C>T	XP_005259970.1:p.Ala509Val
XM_011528017.1:c.422C>T	XP_011526319.1:p.Ala141Val
XM_005259913.2:c.1526C>T	XP_005259970.1:p.Ala509Val
XM_024451518.1:c.422C>T	XP_024307286.1:p.Ala141Val
NM_000528.4:c.1523C>T MANE Select	NP_000519.2:p.Ala508Val
NM_001173498.2:c.1520C>T	NP_001166969.1:p.Ala507Val