Canonical Allele Identifier: CA245135

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 197153
• ClinVar RCV Id: RCV000178111
• dbSNP Id: rs794727626
• gnomAD v2: 19-12775792-C-T
• gnomAD v4: 19-12664978-C-T
• MyVariant Identifiers: chr19:g.12775792C>T (hg19) ; chr19:g.12664978C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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