Canonical Allele Identifier: CA505771082

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1614686
• ClinVar RCV Id: RCV002078789
• dbSNP Id: rs2145261164
• MyVariant Identifiers: chr19:g.12769113G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658299G>A , CM000681.2:g.12658299G>A	GRCh38
NC_000019.9:g.12769113G>A , CM000681.1:g.12769113G>A	GRCh37
NC_000019.8:g.12630113G>A	NCBI36
NG_008318.1:g.13479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1155C>T MANE Select	ENSP00000395473.2:p.His385=
ENST00000221363.8:c.1152C>T	ENSP00000221363.4:p.His384=
ENST00000456935.6:c.1155C>T	ENSP00000395473.2:p.His385=
ENST00000465830.1:n.319C>T
ENST00000466794.5:n.1054C>T
ENST00000495617.1:n.280+432C>T
NM_000528.3:c.1155C>T	NP_000519.2:p.His385=
NM_001173498.1:c.1152C>T	NP_001166969.1:p.His384=
XM_005259913.1:c.1158C>T	XP_005259970.1:p.His386=
XM_011528017.1:c.54C>T	XP_011526319.1:p.His18=
XM_005259913.2:c.1158C>T	XP_005259970.1:p.His386=
XM_024451518.1:c.54C>T	XP_024307286.1:p.His18=
NM_000528.4:c.1155C>T MANE Select	NP_000519.2:p.His385=
NM_001173498.2:c.1152C>T	NP_001166969.1:p.His384=