Canonical Allele Identifier: CA404246124

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12656960-T-C
• MyVariant Identifiers: chr19:g.12767774T>C (hg19) ; chr19:g.12656960T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656960T>C , CM000681.2:g.12656960T>C	GRCh38
NC_000019.9:g.12767774T>C , CM000681.1:g.12767774T>C	GRCh37
NC_000019.8:g.12628774T>C	NCBI36
NG_008318.1:g.14818A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1516A>G MANE Select	ENSP00000395473.2:p.Thr506Ala
ENST00000221363.8:c.1513A>G	ENSP00000221363.4:p.Thr505Ala
ENST00000433513.5:n.122A>G
ENST00000456935.6:c.1516A>G	ENSP00000395473.2:p.Thr506Ala
ENST00000466794.5:n.1415A>G
ENST00000495617.1:n.692A>G
ENST00000593686.1:c.126A>G
ENST00000595880.5:n.113A>G
NM_000528.3:c.1516A>G	NP_000519.2:p.Thr506Ala
NM_001173498.1:c.1513A>G	NP_001166969.1:p.Thr505Ala
XM_005259913.1:c.1519A>G	XP_005259970.1:p.Thr507Ala
XM_011528017.1:c.415A>G	XP_011526319.1:p.Thr139Ala
XM_005259913.2:c.1519A>G	XP_005259970.1:p.Thr507Ala
XM_024451518.1:c.415A>G	XP_024307286.1:p.Thr139Ala
NM_000528.4:c.1516A>G MANE Select	NP_000519.2:p.Thr506Ala
NM_001173498.2:c.1513A>G	NP_001166969.1:p.Thr505Ala