Canonical Allele Identifier: CA404246243

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12656983-A-G
• MyVariant Identifiers: chr19:g.12767797A>G (hg19) ; chr19:g.12656983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656983A>G , CM000681.2:g.12656983A>G	GRCh38
NC_000019.9:g.12767797A>G , CM000681.1:g.12767797A>G	GRCh37
NC_000019.8:g.12628797A>G	NCBI36
NG_008318.1:g.14795T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1493T>C MANE Select	ENSP00000395473.2:p.Ile498Thr
ENST00000221363.8:c.1490T>C	ENSP00000221363.4:p.Ile497Thr
ENST00000433513.5:n.99T>C
ENST00000456935.6:c.1493T>C	ENSP00000395473.2:p.Ile498Thr
ENST00000466794.5:n.1392T>C
ENST00000495617.1:n.669T>C
ENST00000593686.1:c.103T>C
ENST00000595880.5:n.90T>C
NM_000528.3:c.1493T>C	NP_000519.2:p.Ile498Thr
NM_001173498.1:c.1490T>C	NP_001166969.1:p.Ile497Thr
XM_005259913.1:c.1496T>C	XP_005259970.1:p.Ile499Thr
XM_011528017.1:c.392T>C	XP_011526319.1:p.Ile131Thr
XM_005259913.2:c.1496T>C	XP_005259970.1:p.Ile499Thr
XM_024451518.1:c.392T>C	XP_024307286.1:p.Ile131Thr
NM_000528.4:c.1493T>C MANE Select	NP_000519.2:p.Ile498Thr
NM_001173498.2:c.1490T>C	NP_001166969.1:p.Ile497Thr