Canonical Allele Identifier: CA783348365

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1215448223
• gnomAD v3: 19-12657138-G-T
• gnomAD v4: 19-12657138-G-T
• MyVariant Identifiers: chr19:g.12767952G>T (hg19) ; chr19:g.12657138G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657138G>T , CM000681.2:g.12657138G>T	GRCh38
NC_000019.9:g.12767952G>T , CM000681.1:g.12767952G>T	GRCh37
NC_000019.8:g.12628952G>T	NCBI36
NG_008318.1:g.14640C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-82C>A MANE Select	ENSP00000395473.2:n.1420-82C>A
ENST00000221363.8:c.1417-82C>A	ENSP00000221363.4:n.1417-82C>A
ENST00000433513.5:n.25+73C>A
ENST00000456935.6:c.1420-82C>A	ENSP00000395473.2:n.1420-82C>A
ENST00000466794.5:n.1319-82C>A
ENST00000495617.1:n.596-82C>A
ENST00000593686.1:c.30-82C>A
ENST00000595880.5:n.17-82C>A
NM_000528.3:c.1420-82C>A	NP_000519.2:n.1420-82C>A
NM_001173498.1:c.1417-82C>A	NP_001166969.1:n.1417-82C>A
XM_005259913.1:c.1423-82C>A	XP_005259970.1:n.1423-82C>A
XM_011528017.1:c.319-82C>A	XP_011526319.1:n.319-82C>A
XM_005259913.2:c.1423-82C>A	XP_005259970.1:n.1423-82C>A
XM_024451518.1:c.319-82C>A	XP_024307286.1:n.319-82C>A
NM_000528.4:c.1420-82C>A MANE Select	NP_000519.2:n.1420-82C>A
NM_001173498.2:c.1417-82C>A	NP_001166969.1:n.1417-82C>A