Canonical Allele Identifier: CA404243197

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12760942C>T (hg19) ; chr19:g.12650128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650128C>T , CM000681.2:g.12650128C>T	GRCh38
NC_000019.9:g.12760942C>T , CM000681.1:g.12760942C>T	GRCh37
NC_000019.8:g.12621942C>T	NCBI36
NG_008318.1:g.21650G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2141G>A MANE Select	ENSP00000395473.2:p.Trp714Ter
ENST00000221363.8:c.2138G>A	ENSP00000221363.4:p.Trp713Ter
ENST00000456935.6:c.2141G>A	ENSP00000395473.2:p.Trp714Ter
ENST00000466794.5:n.2731G>A
NM_000528.3:c.2141G>A	NP_000519.2:p.Trp714Ter
NM_001173498.1:c.2138G>A	NP_001166969.1:p.Trp713Ter
XM_005259913.1:c.2144G>A	XP_005259970.1:p.Trp715Ter
XM_011528017.1:c.1040G>A	XP_011526319.1:p.Trp347Ter
XM_005259913.2:c.2144G>A	XP_005259970.1:p.Trp715Ter
XM_024451518.1:c.1040G>A	XP_024307286.1:p.Trp347Ter
NM_000528.4:c.2141G>A MANE Select	NP_000519.2:p.Trp714Ter
NM_001173498.2:c.2138G>A	NP_001166969.1:p.Trp713Ter