Canonical Allele Identifier: CA505624426

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1113591
• ClinVar RCV Id: RCV001441013
• dbSNP Id: rs762947868
• gnomAD v2: 19-12759962-C-G
• gnomAD v4: 19-12649148-C-G
• MyVariant Identifiers: chr19:g.12759962C>G (hg19) ; chr19:g.12649148C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649148C>G , CM000681.2:g.12649148C>G	GRCh38
NC_000019.9:g.12759962C>G , CM000681.1:g.12759962C>G	GRCh37
NC_000019.8:g.12620962C>G	NCBI36
NG_008318.1:g.22630G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2424G>C MANE Select	ENSP00000395473.2:p.Ser808=
ENST00000221363.8:c.2421G>C	ENSP00000221363.4:p.Ser807=
ENST00000456935.6:c.2424G>C	ENSP00000395473.2:p.Ser808=
ENST00000466794.5:n.3014G>C
NM_000528.3:c.2424G>C	NP_000519.2:p.Ser808=
NM_001173498.1:c.2421G>C	NP_001166969.1:p.Ser807=
XM_005259913.1:c.2427G>C	XP_005259970.1:p.Ser809=
XM_011528017.1:c.1323G>C	XP_011526319.1:p.Ser441=
XM_005259913.2:c.2427G>C	XP_005259970.1:p.Ser809=
XM_024451518.1:c.1323G>C	XP_024307286.1:p.Ser441=
NM_000528.4:c.2424G>C MANE Select	NP_000519.2:p.Ser808=
NM_001173498.2:c.2421G>C	NP_001166969.1:p.Ser807=