Canonical Allele Identifier: CA404246207

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12656974-C-T
• MyVariant Identifiers: chr19:g.12767788C>T (hg19) ; chr19:g.12656974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656974C>T , CM000681.2:g.12656974C>T	GRCh38
NC_000019.9:g.12767788C>T , CM000681.1:g.12767788C>T	GRCh37
NC_000019.8:g.12628788C>T	NCBI36
NG_008318.1:g.14804G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1502G>A MANE Select	ENSP00000395473.2:p.Cys501Tyr
ENST00000221363.8:c.1499G>A	ENSP00000221363.4:p.Cys500Tyr
ENST00000433513.5:n.108G>A
ENST00000456935.6:c.1502G>A	ENSP00000395473.2:p.Cys501Tyr
ENST00000466794.5:n.1401G>A
ENST00000495617.1:n.678G>A
ENST00000593686.1:c.112G>A
ENST00000595880.5:n.99G>A
NM_000528.3:c.1502G>A	NP_000519.2:p.Cys501Tyr
NM_001173498.1:c.1499G>A	NP_001166969.1:p.Cys500Tyr
XM_005259913.1:c.1505G>A	XP_005259970.1:p.Cys502Tyr
XM_011528017.1:c.401G>A	XP_011526319.1:p.Cys134Tyr
XM_005259913.2:c.1505G>A	XP_005259970.1:p.Cys502Tyr
XM_024451518.1:c.401G>A	XP_024307286.1:p.Cys134Tyr
NM_000528.4:c.1502G>A MANE Select	NP_000519.2:p.Cys501Tyr
NM_001173498.2:c.1499G>A	NP_001166969.1:p.Cys500Tyr