Canonical Allele Identifier: CA404258258

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776563A>T (hg19) ; chr19:g.12665749A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665749A>T , CM000681.2:g.12665749A>T	GRCh38
NC_000019.9:g.12776563A>T , CM000681.1:g.12776563A>T	GRCh37
NC_000019.8:g.12637563A>T	NCBI36
NG_008318.1:g.6029T>A
NG_015814.1:g.3946A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.216T>A MANE Select	ENSP00000395473.2:p.His72Gln
ENST00000221363.8:c.216T>A	ENSP00000221363.4:p.His72Gln
ENST00000456935.6:c.216T>A	ENSP00000395473.2:p.His72Gln
ENST00000466794.5:n.198T>A
ENST00000486847.2:c.160-224T>A	ENSP00000470174.1:n.160-224T>A
ENST00000596512.5:n.201-224T>A
ENST00000597961.1:c.207T>A	ENSP00000472710.1:p.His69Gln
ENST00000598876.1:c.243T>A	ENSP00000470533.1:p.His81Gln
ENST00000600281.1:n.257T>A
NM_000528.3:c.216T>A	NP_000519.2:p.His72Gln
NM_001173498.1:c.216T>A	NP_001166969.1:p.His72Gln
XM_005259913.1:c.216T>A	XP_005259970.1:p.His72Gln
XM_005259913.2:c.216T>A	XP_005259970.1:p.His72Gln
XM_024451518.1:c.-803T>A	XP_024307286.1:n.-803T>A
NM_000528.4:c.216T>A MANE Select	NP_000519.2:p.His72Gln
NM_001173498.2:c.216T>A	NP_001166969.1:p.His72Gln