Canonical Allele Identifier: CA404238299

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2827243
• ClinVar RCV Id: RCV003601796
• gnomAD v4: 19-12647600-T-C
• MyVariant Identifiers: chr19:g.12758414T>C (hg19) ; chr19:g.12647600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647600T>C , CM000681.2:g.12647600T>C	GRCh38
NC_000019.9:g.12758414T>C , CM000681.1:g.12758414T>C	GRCh37
NC_000019.8:g.12619414T>C	NCBI36
NG_008318.1:g.24178A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2665-2A>G MANE Select	ENSP00000395473.2:n.2665-2A>G
ENST00000221363.8:c.2662-2A>G	ENSP00000221363.4:n.2662-2A>G
ENST00000456935.6:c.2665-2A>G	ENSP00000395473.2:n.2665-2A>G
ENST00000466794.5:n.3255-2A>G
ENST00000493218.5:n.74A>G
ENST00000597692.1:c.224-2A>G
NM_000528.3:c.2665-2A>G	NP_000519.2:n.2665-2A>G
NM_001173498.1:c.2662-2A>G	NP_001166969.1:n.2662-2A>G
XM_005259913.1:c.2668-2A>G	XP_005259970.1:n.2668-2A>G
XM_011528017.1:c.1564-2A>G	XP_011526319.1:n.1564-2A>G
XM_005259913.2:c.2668-2A>G	XP_005259970.1:n.2668-2A>G
XM_024451518.1:c.1564-2A>G	XP_024307286.1:n.1564-2A>G
NM_000528.4:c.2665-2A>G MANE Select	NP_000519.2:n.2665-2A>G
NM_001173498.2:c.2662-2A>G	NP_001166969.1:n.2662-2A>G