Canonical Allele Identifier: CA404250698

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1199345135
• gnomAD v2: 19-12772171-T-A
• gnomAD v4: 19-12661357-T-A
• MyVariant Identifiers: chr19:g.12772171T>A (hg19) ; chr19:g.12661357T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12661357T>A , CM000681.2:g.12661357T>A	GRCh38
NC_000019.9:g.12772171T>A , CM000681.1:g.12772171T>A	GRCh37
NC_000019.8:g.12633171T>A	NCBI36
NG_008318.1:g.10421A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.929A>T MANE Select	ENSP00000395473.2:p.Asn310Ile
ENST00000221363.8:c.929A>T	ENSP00000221363.4:p.Asn310Ile
ENST00000456935.6:c.929A>T	ENSP00000395473.2:p.Asn310Ile
ENST00000462144.1:n.122A>T
ENST00000466794.5:n.911A>T
NM_000528.3:c.929A>T	NP_000519.2:p.Asn310Ile
NM_001173498.1:c.929A>T	NP_001166969.1:p.Asn310Ile
XM_005259913.1:c.929A>T	XP_005259970.1:p.Asn310Ile
XM_011528017.1:c.-90A>T	XP_011526319.1:n.-90A>T
XM_005259913.2:c.929A>T	XP_005259970.1:p.Asn310Ile
XM_024451518.1:c.-90A>T	XP_024307286.1:n.-90A>T
NM_000528.4:c.929A>T MANE Select	NP_000519.2:p.Asn310Ile
NM_001173498.2:c.929A>T	NP_001166969.1:p.Asn310Ile