Canonical Allele Identifier: CA404256535

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665429-T-C
• MyVariant Identifiers: chr19:g.12776243T>C (hg19) ; chr19:g.12665429T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665429T>C , CM000681.2:g.12665429T>C	GRCh38
NC_000019.9:g.12776243T>C , CM000681.1:g.12776243T>C	GRCh37
NC_000019.8:g.12637243T>C	NCBI36
NG_008318.1:g.6349A>G
NG_015814.1:g.3626T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.359A>G MANE Select	ENSP00000395473.2:p.Glu120Gly
ENST00000221363.8:c.359A>G	ENSP00000221363.4:p.Glu120Gly
ENST00000456935.6:c.359A>G	ENSP00000395473.2:p.Glu120Gly
ENST00000466794.5:n.341A>G
ENST00000486847.2:c.256A>G	ENSP00000470174.1:p.Arg86Gly
ENST00000596512.5:n.297A>G
ENST00000597961.1:c.350A>G	ENSP00000472710.1:p.Glu117Gly
ENST00000598876.1:c.386A>G	ENSP00000470533.1:p.Glu129Gly
ENST00000600281.1:n.400A>G
NM_000528.3:c.359A>G	NP_000519.2:p.Glu120Gly
NM_001173498.1:c.359A>G	NP_001166969.1:p.Glu120Gly
XM_005259913.1:c.359A>G	XP_005259970.1:p.Glu120Gly
XM_005259913.2:c.359A>G	XP_005259970.1:p.Glu120Gly
XM_024451518.1:c.-660A>G	XP_024307286.1:n.-660A>G
NM_000528.4:c.359A>G MANE Select	NP_000519.2:p.Glu120Gly
NM_001173498.2:c.359A>G	NP_001166969.1:p.Glu120Gly