Canonical Allele Identifier: CA9226876

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1660511
• ClinVar RCV Id: RCV002183838
• dbSNP Id: rs772053358
• ExAC: 19:12776539 G / A
• gnomAD v2: 19-12776539-G-A
• gnomAD v4: 19-12665725-G-A
• MyVariant Identifiers: chr19:g.12776539G>A (hg19) ; chr19:g.12665725G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665725G>A , CM000681.2:g.12665725G>A	GRCh38
NC_000019.9:g.12776539G>A , CM000681.1:g.12776539G>A	GRCh37
NC_000019.8:g.12637539G>A	NCBI36
NG_008318.1:g.6053C>T
NG_015814.1:g.3922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.240C>T MANE Select	ENSP00000395473.2:p.Thr80=
ENST00000221363.8:c.240C>T	ENSP00000221363.4:p.Thr80=
ENST00000456935.6:c.240C>T	ENSP00000395473.2:p.Thr80=
ENST00000466794.5:n.222C>T
ENST00000486847.2:c.160-200C>T	ENSP00000470174.1:n.160-200C>T
ENST00000596512.5:n.201-200C>T
ENST00000597961.1:c.231C>T	ENSP00000472710.1:p.Thr77=
ENST00000598876.1:c.267C>T	ENSP00000470533.1:p.Thr89=
ENST00000600281.1:n.281C>T
NM_000528.3:c.240C>T	NP_000519.2:p.Thr80=
NM_001173498.1:c.240C>T	NP_001166969.1:p.Thr80=
XM_005259913.1:c.240C>T	XP_005259970.1:p.Thr80=
XM_005259913.2:c.240C>T	XP_005259970.1:p.Thr80=
XM_024451518.1:c.-779C>T	XP_024307286.1:n.-779C>T
NM_000528.4:c.240C>T MANE Select	NP_000519.2:p.Thr80=
NM_001173498.2:c.240C>T	NP_001166969.1:p.Thr80=