Canonical Allele Identifier: CA305470308

Gene: MAN2B1

Linked Data

• dbSNP Id: rs961104758
• gnomAD v4: 19-12656916-T-C
• MyVariant Identifiers: chr19:g.12767730T>C (hg19) ; chr19:g.12656916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656916T>C , CM000681.2:g.12656916T>C	GRCh38
NC_000019.9:g.12767730T>C , CM000681.1:g.12767730T>C	GRCh37
NC_000019.8:g.12628730T>C	NCBI36
NG_008318.1:g.14862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1527+33A>G MANE Select	ENSP00000395473.2:n.1527+33A>G
ENST00000221363.8:c.1524+33A>G	ENSP00000221363.4:n.1524+33A>G
ENST00000433513.5:n.133+33A>G
ENST00000456935.6:c.1527+33A>G	ENSP00000395473.2:n.1527+33A>G
ENST00000466794.5:n.1426+33A>G
ENST00000495617.1:n.703+33A>G
ENST00000593686.1:c.137+33A>G
ENST00000595880.5:n.124+33A>G
NM_000528.3:c.1527+33A>G	NP_000519.2:n.1527+33A>G
NM_001173498.1:c.1524+33A>G	NP_001166969.1:n.1524+33A>G
XM_005259913.1:c.1530+33A>G	XP_005259970.1:n.1530+33A>G
XM_011528017.1:c.426+33A>G	XP_011526319.1:n.426+33A>G
XM_005259913.2:c.1530+33A>G	XP_005259970.1:n.1530+33A>G
XM_024451518.1:c.426+33A>G	XP_024307286.1:n.426+33A>G
NM_000528.4:c.1527+33A>G MANE Select	NP_000519.2:n.1527+33A>G
NM_001173498.2:c.1524+33A>G	NP_001166969.1:n.1524+33A>G