Canonical Allele Identifier: CA404243555

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12761009T>G (hg19) ; chr19:g.12650195T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650195T>G , CM000681.2:g.12650195T>G	GRCh38
NC_000019.9:g.12761009T>G , CM000681.1:g.12761009T>G	GRCh37
NC_000019.8:g.12622009T>G	NCBI36
NG_008318.1:g.21583A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2074A>C MANE Select	ENSP00000395473.2:p.Asn692His
ENST00000221363.8:c.2071A>C	ENSP00000221363.4:p.Asn691His
ENST00000456935.6:c.2074A>C	ENSP00000395473.2:p.Asn692His
ENST00000466794.5:n.2664A>C
NM_000528.3:c.2074A>C	NP_000519.2:p.Asn692His
NM_001173498.1:c.2071A>C	NP_001166969.1:p.Asn691His
XM_005259913.1:c.2077A>C	XP_005259970.1:p.Asn693His
XM_011528017.1:c.973A>C	XP_011526319.1:p.Asn325His
XM_005259913.2:c.2077A>C	XP_005259970.1:p.Asn693His
XM_024451518.1:c.973A>C	XP_024307286.1:p.Asn325His
NM_000528.4:c.2074A>C MANE Select	NP_000519.2:p.Asn692His
NM_001173498.2:c.2071A>C	NP_001166969.1:p.Asn691His