Canonical Allele Identifier: CA9226424

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 792516
• ClinVar RCV Id: RCV000975622
• dbSNP Id: rs754672974
• ExAC: 19:12767772 C / T
• gnomAD v2: 19-12767772-C-T
• gnomAD v3: 19-12656958-C-T
• gnomAD v4: 19-12656958-C-T
• COSMIC: COSM4878838
• MyVariant Identifiers: chr19:g.12767772C>T (hg19) ; chr19:g.12656958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656958C>T , CM000681.2:g.12656958C>T	GRCh38
NC_000019.9:g.12767772C>T , CM000681.1:g.12767772C>T	GRCh37
NC_000019.8:g.12628772C>T	NCBI36
NG_008318.1:g.14820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1518G>A MANE Select	ENSP00000395473.2:p.Thr506=
ENST00000221363.8:c.1515G>A	ENSP00000221363.4:p.Thr505=
ENST00000433513.5:n.124G>A
ENST00000456935.6:c.1518G>A	ENSP00000395473.2:p.Thr506=
ENST00000466794.5:n.1417G>A
ENST00000495617.1:n.694G>A
ENST00000593686.1:c.128G>A
ENST00000595880.5:n.115G>A
NM_000528.3:c.1518G>A	NP_000519.2:p.Thr506=
NM_001173498.1:c.1515G>A	NP_001166969.1:p.Thr505=
XM_005259913.1:c.1521G>A	XP_005259970.1:p.Thr507=
XM_011528017.1:c.417G>A	XP_011526319.1:p.Thr139=
XM_005259913.2:c.1521G>A	XP_005259970.1:p.Thr507=
XM_024451518.1:c.417G>A	XP_024307286.1:p.Thr139=
NM_000528.4:c.1518G>A MANE Select	NP_000519.2:p.Thr506=
NM_001173498.2:c.1515G>A	NP_001166969.1:p.Thr505=