Canonical Allele Identifier: CA305461804

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 556664
• ClinVar RCV Id: RCV000672697
• dbSNP Id: rs200036864
• gnomAD v3: 19-12649135-C-T
• gnomAD v4: 19-12649135-C-T
• MyVariant Identifiers: chr19:g.12759949C>T (hg19) ; chr19:g.12649135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649135C>T , CM000681.2:g.12649135C>T	GRCh38
NC_000019.9:g.12759949C>T , CM000681.1:g.12759949C>T	GRCh37
NC_000019.8:g.12620949C>T	NCBI36
NG_008318.1:g.22643G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2436+1G>A MANE Select	ENSP00000395473.2:n.2436+1G>A
ENST00000221363.8:c.2433+1G>A	ENSP00000221363.4:n.2433+1G>A
ENST00000456935.6:c.2436+1G>A	ENSP00000395473.2:n.2436+1G>A
ENST00000466794.5:n.3026+1G>A
NM_000528.3:c.2436+1G>A	NP_000519.2:n.2436+1G>A
NM_001173498.1:c.2433+1G>A	NP_001166969.1:n.2433+1G>A
XM_005259913.1:c.2439+1G>A	XP_005259970.1:n.2439+1G>A
XM_011528017.1:c.1335+1G>A	XP_011526319.1:n.1335+1G>A
XM_005259913.2:c.2439+1G>A	XP_005259970.1:n.2439+1G>A
XM_024451518.1:c.1335+1G>A	XP_024307286.1:n.1335+1G>A
NM_000528.4:c.2436+1G>A MANE Select	NP_000519.2:n.2436+1G>A
NM_001173498.2:c.2433+1G>A	NP_001166969.1:n.2433+1G>A