Canonical Allele Identifier: CA404252944

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12663792-T-C
• MyVariant Identifiers: chr19:g.12774606T>C (hg19) ; chr19:g.12663792T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663792T>C , CM000681.2:g.12663792T>C	GRCh38
NC_000019.9:g.12774606T>C , CM000681.1:g.12774606T>C	GRCh37
NC_000019.8:g.12635606T>C	NCBI36
NG_008318.1:g.7986A>G
NG_015814.1:g.1989T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.674A>G MANE Select	ENSP00000395473.2:p.Asp225Gly
ENST00000221363.8:c.674A>G	ENSP00000221363.4:p.Asp225Gly
ENST00000456935.6:c.674A>G	ENSP00000395473.2:p.Asp225Gly
ENST00000466794.5:n.656A>G
ENST00000486847.2:c.377A>G	ENSP00000470174.1:p.Asp126Gly
NM_000528.3:c.674A>G	NP_000519.2:p.Asp225Gly
NM_001173498.1:c.674A>G	NP_001166969.1:p.Asp225Gly
XM_005259913.1:c.674A>G	XP_005259970.1:p.Asp225Gly
XM_005259913.2:c.674A>G	XP_005259970.1:p.Asp225Gly
XM_024451518.1:c.-345A>G	XP_024307286.1:n.-345A>G
NM_000528.4:c.674A>G MANE Select	NP_000519.2:p.Asp225Gly
NM_001173498.2:c.674A>G	NP_001166969.1:p.Asp225Gly