Canonical Allele Identifier: CA146745

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 93210
• ClinVar RCV Id: RCV000079073 ; RCV000295977 ; RCV000675480
• dbSNP Id: rs34544747
• ExAC: 19:12767849 C / A
• gnomAD v2: 19-12767849-C-A
• gnomAD v3: 19-12657035-C-A
• gnomAD v4: 19-12657035-C-A
• MyVariant Identifiers: chr19:g.12767849C>A (hg19) ; chr19:g.12657035C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657035C>A , CM000681.2:g.12657035C>A	GRCh38
NC_000019.9:g.12767849C>A , CM000681.1:g.12767849C>A	GRCh37
NC_000019.8:g.12628849C>A	NCBI36
NG_008318.1:g.14743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1441G>T MANE Select	ENSP00000395473.2:p.Ala481Ser
ENST00000221363.8:c.1438G>T	ENSP00000221363.4:p.Ala480Ser
ENST00000433513.5:n.47G>T
ENST00000456935.6:c.1441G>T	ENSP00000395473.2:p.Ala481Ser
ENST00000466794.5:n.1340G>T
ENST00000495617.1:n.617G>T
ENST00000593686.1:c.51G>T
ENST00000595880.5:n.38G>T
NM_000528.3:c.1441G>T	NP_000519.2:p.Ala481Ser
NM_001173498.1:c.1438G>T	NP_001166969.1:p.Ala480Ser
XM_005259913.1:c.1444G>T	XP_005259970.1:p.Ala482Ser
XM_011528017.1:c.340G>T	XP_011526319.1:p.Ala114Ser
XM_005259913.2:c.1444G>T	XP_005259970.1:p.Ala482Ser
XM_024451518.1:c.340G>T	XP_024307286.1:p.Ala114Ser
NM_000528.4:c.1441G>T MANE Select	NP_000519.2:p.Ala481Ser
NM_001173498.2:c.1438G>T	NP_001166969.1:p.Ala480Ser