Canonical Allele Identifier: CA404258250

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665748-C-G
• MyVariant Identifiers: chr19:g.12776562C>G (hg19) ; chr19:g.12665748C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665748C>G , CM000681.2:g.12665748C>G	GRCh38
NC_000019.9:g.12776562C>G , CM000681.1:g.12776562C>G	GRCh37
NC_000019.8:g.12637562C>G	NCBI36
NG_008318.1:g.6030G>C
NG_015814.1:g.3945C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.217G>C MANE Select	ENSP00000395473.2:p.Asp73His
ENST00000221363.8:c.217G>C	ENSP00000221363.4:p.Asp73His
ENST00000456935.6:c.217G>C	ENSP00000395473.2:p.Asp73His
ENST00000466794.5:n.199G>C
ENST00000486847.2:c.160-223G>C	ENSP00000470174.1:n.160-223G>C
ENST00000596512.5:n.201-223G>C
ENST00000597961.1:c.208G>C	ENSP00000472710.1:p.Asp70His
ENST00000598876.1:c.244G>C	ENSP00000470533.1:p.Asp82His
ENST00000600281.1:n.258G>C
NM_000528.3:c.217G>C	NP_000519.2:p.Asp73His
NM_001173498.1:c.217G>C	NP_001166969.1:p.Asp73His
XM_005259913.1:c.217G>C	XP_005259970.1:p.Asp73His
XM_005259913.2:c.217G>C	XP_005259970.1:p.Asp73His
XM_024451518.1:c.-802G>C	XP_024307286.1:n.-802G>C
NM_000528.4:c.217G>C MANE Select	NP_000519.2:p.Asp73His
NM_001173498.2:c.217G>C	NP_001166969.1:p.Asp73His