Canonical Allele Identifier: CA404256433

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665417-A-C
• MyVariant Identifiers: chr19:g.12776231A>C (hg19) ; chr19:g.12665417A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665417A>C , CM000681.2:g.12665417A>C	GRCh38
NC_000019.9:g.12776231A>C , CM000681.1:g.12776231A>C	GRCh37
NC_000019.8:g.12637231A>C	NCBI36
NG_008318.1:g.6361T>G
NG_015814.1:g.3614A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.371T>G MANE Select	ENSP00000395473.2:p.Phe124Cys
ENST00000221363.8:c.371T>G	ENSP00000221363.4:p.Phe124Cys
ENST00000456935.6:c.371T>G	ENSP00000395473.2:p.Phe124Cys
ENST00000466794.5:n.353T>G
ENST00000486847.2:c.268T>G	ENSP00000470174.1:p.Ser90Ala
ENST00000596512.5:n.309T>G
ENST00000597961.1:c.362T>G	ENSP00000472710.1:p.Phe121Cys
ENST00000598876.1:c.398T>G	ENSP00000470533.1:p.Phe133Cys
ENST00000600281.1:n.412T>G
NM_000528.3:c.371T>G	NP_000519.2:p.Phe124Cys
NM_001173498.1:c.371T>G	NP_001166969.1:p.Phe124Cys
XM_005259913.1:c.371T>G	XP_005259970.1:p.Phe124Cys
XM_005259913.2:c.371T>G	XP_005259970.1:p.Phe124Cys
XM_024451518.1:c.-648T>G	XP_024307286.1:n.-648T>G
NM_000528.4:c.371T>G MANE Select	NP_000519.2:p.Phe124Cys
NM_001173498.2:c.371T>G	NP_001166969.1:p.Phe124Cys