Canonical Allele Identifier: CA505626273

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 793621
• ClinVar RCV Id: RCV001471151
• dbSNP Id: rs794727626
• gnomAD v3: 19-12664978-C-G
• gnomAD v4: 19-12664978-C-G
• MyVariant Identifiers: chr19:g.12775792C>G (hg19) ; chr19:g.12664978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664978C>G , CM000681.2:g.12664978C>G	GRCh38
NC_000019.9:g.12775792C>G , CM000681.1:g.12775792C>G	GRCh37
NC_000019.8:g.12636792C>G	NCBI36
NG_008318.1:g.6800G>C
NG_015814.1:g.3175C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.444G>C MANE Select	ENSP00000395473.2:p.Leu148=
ENST00000221363.8:c.444G>C	ENSP00000221363.4:p.Leu148=
ENST00000456935.6:c.444G>C	ENSP00000395473.2:p.Leu148=
ENST00000466794.5:n.426G>C
ENST00000486847.2:c.333+374G>C	ENSP00000470174.1:n.333+374G>C
ENST00000596512.5:n.382G>C
ENST00000597961.1:c.435G>C	ENSP00000472710.1:p.Leu145=
ENST00000598876.1:c.471G>C	ENSP00000470533.1:p.Leu157=
NM_000528.3:c.444G>C	NP_000519.2:p.Leu148=
NM_001173498.1:c.444G>C	NP_001166969.1:p.Leu148=
XM_005259913.1:c.444G>C	XP_005259970.1:p.Leu148=
XM_005259913.2:c.444G>C	XP_005259970.1:p.Leu148=
XM_024451518.1:c.-575G>C	XP_024307286.1:n.-575G>C
NM_000528.4:c.444G>C MANE Select	NP_000519.2:p.Leu148=
NM_001173498.2:c.444G>C	NP_001166969.1:p.Leu148=