Canonical Allele Identifier: CA505624726

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2145250403
• gnomAD v4: 19-12655787-T-C
• MyVariant Identifiers: chr19:g.12766601T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655787T>C , CM000681.2:g.12655787T>C	GRCh38
NC_000019.9:g.12766601T>C , CM000681.1:g.12766601T>C	GRCh37
NC_000019.8:g.12627601T>C	NCBI36
NG_008318.1:g.15991A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1737A>G MANE Select	ENSP00000395473.2:p.Ser579=
ENST00000221363.8:c.1734A>G	ENSP00000221363.4:p.Ser578=
ENST00000433513.5:n.343A>G
ENST00000456935.6:c.1737A>G	ENSP00000395473.2:p.Ser579=
ENST00000466794.5:n.2327A>G
ENST00000593686.1:c.330A>G
ENST00000595880.5:n.334A>G
ENST00000596591.1:c.101A>G
NM_000528.3:c.1737A>G	NP_000519.2:p.Ser579=
NM_001173498.1:c.1734A>G	NP_001166969.1:p.Ser578=
XM_005259913.1:c.1740A>G	XP_005259970.1:p.Ser580=
XM_011528017.1:c.636A>G	XP_011526319.1:p.Ser212=
XM_005259913.2:c.1740A>G	XP_005259970.1:p.Ser580=
XM_024451518.1:c.636A>G	XP_024307286.1:p.Ser212=
NM_000528.4:c.1737A>G MANE Select	NP_000519.2:p.Ser579=
NM_001173498.2:c.1734A>G	NP_001166969.1:p.Ser578=