Canonical Allele Identifier: CA404237191

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1427504016
• gnomAD v2: 19-12758050-T-C
• gnomAD v4: 19-12647236-T-C
• MyVariant Identifiers: chr19:g.12758050T>C (hg19) ; chr19:g.12647236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647236T>C , CM000681.2:g.12647236T>C	GRCh38
NC_000019.9:g.12758050T>C , CM000681.1:g.12758050T>C	GRCh37
NC_000019.8:g.12619050T>C	NCBI36
NG_008318.1:g.24542A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2920A>G MANE Select	ENSP00000395473.2:p.Thr974Ala
ENST00000221363.8:c.2917A>G	ENSP00000221363.4:p.Thr973Ala
ENST00000456935.6:c.2920A>G	ENSP00000395473.2:p.Thr974Ala
ENST00000466794.5:n.3510A>G
ENST00000469423.1:n.349A>G
ENST00000493218.5:n.331A>G
ENST00000597692.1:c.479A>G
NM_000528.3:c.2920A>G	NP_000519.2:p.Thr974Ala
NM_001173498.1:c.2917A>G	NP_001166969.1:p.Thr973Ala
XM_005259913.1:c.2923A>G	XP_005259970.1:p.Thr975Ala
XM_011528017.1:c.1819A>G	XP_011526319.1:p.Thr607Ala
XM_005259913.2:c.2923A>G	XP_005259970.1:p.Thr975Ala
XM_024451518.1:c.1819A>G	XP_024307286.1:p.Thr607Ala
NM_000528.4:c.2920A>G MANE Select	NP_000519.2:p.Thr974Ala
NM_001173498.2:c.2917A>G	NP_001166969.1:p.Thr973Ala