Canonical Allele Identifier: CA783384584

Gene: MAN2B1

Linked Data

• dbSNP Id: rs559044566
• gnomAD v3: 19-12647896-T-G
• gnomAD v4: 19-12647896-T-G
• MyVariant Identifiers: chr19:g.12758710T>G (hg19) ; chr19:g.12647896T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647896T>G , CM000681.2:g.12647896T>G	GRCh38
NC_000019.9:g.12758710T>G , CM000681.1:g.12758710T>G	GRCh37
NC_000019.8:g.12619710T>G	NCBI36
NG_008318.1:g.23882A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+279A>C MANE Select	ENSP00000395473.2:n.2664+279A>C
ENST00000221363.8:c.2661+279A>C	ENSP00000221363.4:n.2661+279A>C
ENST00000456935.6:c.2664+279A>C	ENSP00000395473.2:n.2664+279A>C
ENST00000466794.5:n.3254+279A>C
ENST00000597692.1:c.223+279A>C
NM_000528.3:c.2664+279A>C	NP_000519.2:n.2664+279A>C
NM_001173498.1:c.2661+279A>C	NP_001166969.1:n.2661+279A>C
XM_005259913.1:c.2667+279A>C	XP_005259970.1:n.2667+279A>C
XM_011528017.1:c.1563+279A>C	XP_011526319.1:n.1563+279A>C
XM_005259913.2:c.2667+279A>C	XP_005259970.1:n.2667+279A>C
XM_024451518.1:c.1563+279A>C	XP_024307286.1:n.1563+279A>C
NM_000528.4:c.2664+279A>C MANE Select	NP_000519.2:n.2664+279A>C
NM_001173498.2:c.2661+279A>C	NP_001166969.1:n.2661+279A>C