Canonical Allele Identifier: CA404252989

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12663799-A-G
• MyVariant Identifiers: chr19:g.12774613A>G (hg19) ; chr19:g.12663799A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663799A>G , CM000681.2:g.12663799A>G	GRCh38
NC_000019.9:g.12774613A>G , CM000681.1:g.12774613A>G	GRCh37
NC_000019.8:g.12635613A>G	NCBI36
NG_008318.1:g.7979T>C
NG_015814.1:g.1996A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.667T>C MANE Select	ENSP00000395473.2:p.Tyr223His
ENST00000221363.8:c.667T>C	ENSP00000221363.4:p.Tyr223His
ENST00000456935.6:c.667T>C	ENSP00000395473.2:p.Tyr223His
ENST00000466794.5:n.649T>C
ENST00000486847.2:c.370T>C	ENSP00000470174.1:p.Tyr124His
NM_000528.3:c.667T>C	NP_000519.2:p.Tyr223His
NM_001173498.1:c.667T>C	NP_001166969.1:p.Tyr223His
XM_005259913.1:c.667T>C	XP_005259970.1:p.Tyr223His
XM_005259913.2:c.667T>C	XP_005259970.1:p.Tyr223His
XM_024451518.1:c.-352T>C	XP_024307286.1:n.-352T>C
NM_000528.4:c.667T>C MANE Select	NP_000519.2:p.Tyr223His
NM_001173498.2:c.667T>C	NP_001166969.1:p.Tyr223His