Canonical Allele Identifier: CA505771124

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658460-G-A
• MyVariant Identifiers: chr19:g.12769274G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658460G>A , CM000681.2:g.12658460G>A	GRCh38
NC_000019.9:g.12769274G>A , CM000681.1:g.12769274G>A	GRCh37
NC_000019.8:g.12630274G>A	NCBI36
NG_008318.1:g.13318C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1077C>T MANE Select	ENSP00000395473.2:p.Tyr359=
ENST00000221363.8:c.1074C>T	ENSP00000221363.4:p.Tyr358=
ENST00000456935.6:c.1077C>T	ENSP00000395473.2:p.Tyr359=
ENST00000465830.1:n.158C>T
ENST00000466794.5:n.1009-116C>T
ENST00000495617.1:n.280+271C>T
NM_000528.3:c.1077C>T	NP_000519.2:p.Tyr359=
NM_001173498.1:c.1074C>T	NP_001166969.1:p.Tyr358=
XM_005259913.1:c.1080C>T	XP_005259970.1:p.Tyr360=
XM_011528017.1:c.9-116C>T	XP_011526319.1:n.9-116C>T
XM_005259913.2:c.1080C>T	XP_005259970.1:p.Tyr360=
XM_024451518.1:c.9-116C>T	XP_024307286.1:n.9-116C>T
NM_000528.4:c.1077C>T MANE Select	NP_000519.2:p.Tyr359=
NM_001173498.2:c.1074C>T	NP_001166969.1:p.Tyr358=