Canonical Allele Identifier: CA404240996

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023773990
• gnomAD v4: 19-12649158-C-G
• MyVariant Identifiers: chr19:g.12759972C>G (hg19) ; chr19:g.12649158C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649158C>G , CM000681.2:g.12649158C>G	GRCh38
NC_000019.9:g.12759972C>G , CM000681.1:g.12759972C>G	GRCh37
NC_000019.8:g.12620972C>G	NCBI36
NG_008318.1:g.22620G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2414G>C MANE Select	ENSP00000395473.2:p.Arg805Thr
ENST00000221363.8:c.2411G>C	ENSP00000221363.4:p.Arg804Thr
ENST00000456935.6:c.2414G>C	ENSP00000395473.2:p.Arg805Thr
ENST00000466794.5:n.3004G>C
NM_000528.3:c.2414G>C	NP_000519.2:p.Arg805Thr
NM_001173498.1:c.2411G>C	NP_001166969.1:p.Arg804Thr
XM_005259913.1:c.2417G>C	XP_005259970.1:p.Arg806Thr
XM_011528017.1:c.1313G>C	XP_011526319.1:p.Arg438Thr
XM_005259913.2:c.2417G>C	XP_005259970.1:p.Arg806Thr
XM_024451518.1:c.1313G>C	XP_024307286.1:p.Arg438Thr
NM_000528.4:c.2414G>C MANE Select	NP_000519.2:p.Arg805Thr
NM_001173498.2:c.2411G>C	NP_001166969.1:p.Arg804Thr