Canonical Allele Identifier: CA9226212

Gene: MAN2B1

Linked Data

• dbSNP Id: rs747691435
• ExAC: 19:12761047 A / C
• gnomAD v2: 19-12761047-A-C
• MyVariant Identifiers: chr19:g.12761047A>C (hg19) ; chr19:g.12650233A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650233A>C , CM000681.2:g.12650233A>C	GRCh38
NC_000019.9:g.12761047A>C , CM000681.1:g.12761047A>C	GRCh37
NC_000019.8:g.12622047A>C	NCBI36
NG_008318.1:g.21545T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2047-11T>G MANE Select	ENSP00000395473.2:n.2047-11T>G
ENST00000221363.8:c.2044-11T>G	ENSP00000221363.4:n.2044-11T>G
ENST00000456935.6:c.2047-11T>G	ENSP00000395473.2:n.2047-11T>G
ENST00000466794.5:n.2637-11T>G
NM_000528.3:c.2047-11T>G	NP_000519.2:n.2047-11T>G
NM_001173498.1:c.2044-11T>G	NP_001166969.1:n.2044-11T>G
XM_005259913.1:c.2050-11T>G	XP_005259970.1:n.2050-11T>G
XM_011528017.1:c.946-11T>G	XP_011526319.1:n.946-11T>G
XM_005259913.2:c.2050-11T>G	XP_005259970.1:n.2050-11T>G
XM_024451518.1:c.946-11T>G	XP_024307286.1:n.946-11T>G
NM_000528.4:c.2047-11T>G MANE Select	NP_000519.2:n.2047-11T>G
NM_001173498.2:c.2044-11T>G	NP_001166969.1:n.2044-11T>G