Canonical Allele Identifier: CA404248938

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769311C>A (hg19) ; chr19:g.12658497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658497C>A , CM000681.2:g.12658497C>A	GRCh38
NC_000019.9:g.12769311C>A , CM000681.1:g.12769311C>A	GRCh37
NC_000019.8:g.12630311C>A	NCBI36
NG_008318.1:g.13281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1040G>T MANE Select	ENSP00000395473.2:p.Ser347Ile
ENST00000221363.8:c.1037G>T	ENSP00000221363.4:p.Ser346Ile
ENST00000456935.6:c.1040G>T	ENSP00000395473.2:p.Ser347Ile
ENST00000465830.1:n.121G>T
ENST00000466794.5:n.1009-153G>T
ENST00000495617.1:n.280+234G>T
NM_000528.3:c.1040G>T	NP_000519.2:p.Ser347Ile
NM_001173498.1:c.1037G>T	NP_001166969.1:p.Ser346Ile
XM_005259913.1:c.1043G>T	XP_005259970.1:p.Ser348Ile
XM_011528017.1:c.9-153G>T	XP_011526319.1:n.9-153G>T
XM_005259913.2:c.1043G>T	XP_005259970.1:p.Ser348Ile
XM_024451518.1:c.9-153G>T	XP_024307286.1:n.9-153G>T
NM_000528.4:c.1040G>T MANE Select	NP_000519.2:p.Ser347Ile
NM_001173498.2:c.1037G>T	NP_001166969.1:p.Ser346Ile