Canonical Allele Identifier: CA505770876

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1458039852
• gnomAD v2: 19-12768893-T-C
• MyVariant Identifiers: chr19:g.12768893T>C (hg19) ; chr19:g.12658079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658079T>C , CM000681.2:g.12658079T>C	GRCh38
NC_000019.9:g.12768893T>C , CM000681.1:g.12768893T>C	GRCh37
NC_000019.8:g.12629893T>C	NCBI36
NG_008318.1:g.13699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1293A>G MANE Select	ENSP00000395473.2:p.Gly431=
ENST00000221363.8:c.1290A>G	ENSP00000221363.4:p.Gly430=
ENST00000456935.6:c.1293A>G	ENSP00000395473.2:p.Gly431=
ENST00000465830.1:n.457A>G
ENST00000466794.5:n.1192A>G
ENST00000495617.1:n.281-319A>G
NM_000528.3:c.1293A>G	NP_000519.2:p.Gly431=
NM_001173498.1:c.1290A>G	NP_001166969.1:p.Gly430=
XM_005259913.1:c.1296A>G	XP_005259970.1:p.Gly432=
XM_011528017.1:c.192A>G	XP_011526319.1:p.Gly64=
XM_005259913.2:c.1296A>G	XP_005259970.1:p.Gly432=
XM_024451518.1:c.192A>G	XP_024307286.1:p.Gly64=
NM_000528.4:c.1293A>G MANE Select	NP_000519.2:p.Gly431=
NM_001173498.2:c.1290A>G	NP_001166969.1:p.Gly430=