Canonical Allele Identifier: CA404243111

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023807117
• gnomAD v4: 19-12650113-A-G
• MyVariant Identifiers: chr19:g.12760927A>G (hg19) ; chr19:g.12650113A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650113A>G , CM000681.2:g.12650113A>G	GRCh38
NC_000019.9:g.12760927A>G , CM000681.1:g.12760927A>G	GRCh37
NC_000019.8:g.12621927A>G	NCBI36
NG_008318.1:g.21665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2156T>C MANE Select	ENSP00000395473.2:p.Ile719Thr
ENST00000221363.8:c.2153T>C	ENSP00000221363.4:p.Ile718Thr
ENST00000456935.6:c.2156T>C	ENSP00000395473.2:p.Ile719Thr
ENST00000466794.5:n.2746T>C
NM_000528.3:c.2156T>C	NP_000519.2:p.Ile719Thr
NM_001173498.1:c.2153T>C	NP_001166969.1:p.Ile718Thr
XM_005259913.1:c.2159T>C	XP_005259970.1:p.Ile720Thr
XM_011528017.1:c.1055T>C	XP_011526319.1:p.Ile352Thr
XM_005259913.2:c.2159T>C	XP_005259970.1:p.Ile720Thr
XM_024451518.1:c.1055T>C	XP_024307286.1:p.Ile352Thr
NM_000528.4:c.2156T>C MANE Select	NP_000519.2:p.Ile719Thr
NM_001173498.2:c.2153T>C	NP_001166969.1:p.Ile718Thr