Canonical Allele Identifier: CA9226514

Gene: MAN2B1

Linked Data

• dbSNP Id: rs758438448
• ExAC: 19:12768903 T / C
• gnomAD v2: 19-12768903-T-C
• gnomAD v3: 19-12658089-T-C
• gnomAD v4: 19-12658089-T-C
• MyVariant Identifiers: chr19:g.12768903T>C (hg19) ; chr19:g.12658089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658089T>C , CM000681.2:g.12658089T>C	GRCh38
NC_000019.9:g.12768903T>C , CM000681.1:g.12768903T>C	GRCh37
NC_000019.8:g.12629903T>C	NCBI36
NG_008318.1:g.13689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1283A>G MANE Select	ENSP00000395473.2:p.Tyr428Cys
ENST00000221363.8:c.1280A>G	ENSP00000221363.4:p.Tyr427Cys
ENST00000456935.6:c.1283A>G	ENSP00000395473.2:p.Tyr428Cys
ENST00000465830.1:n.447A>G
ENST00000466794.5:n.1182A>G
ENST00000495617.1:n.281-329A>G
NM_000528.3:c.1283A>G	NP_000519.2:p.Tyr428Cys
NM_001173498.1:c.1280A>G	NP_001166969.1:p.Tyr427Cys
XM_005259913.1:c.1286A>G	XP_005259970.1:p.Tyr429Cys
XM_011528017.1:c.182A>G	XP_011526319.1:p.Tyr61Cys
XM_005259913.2:c.1286A>G	XP_005259970.1:p.Tyr429Cys
XM_024451518.1:c.182A>G	XP_024307286.1:p.Tyr61Cys
NM_000528.4:c.1283A>G MANE Select	NP_000519.2:p.Tyr428Cys
NM_001173498.2:c.1280A>G	NP_001166969.1:p.Tyr427Cys