Canonical Allele Identifier: CA404248843

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769300C>A (hg19) ; chr19:g.12658486C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658486C>A , CM000681.2:g.12658486C>A	GRCh38
NC_000019.9:g.12769300C>A , CM000681.1:g.12769300C>A	GRCh37
NC_000019.8:g.12630300C>A	NCBI36
NG_008318.1:g.13292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1051G>T MANE Select	ENSP00000395473.2:p.Val351Phe
ENST00000221363.8:c.1048G>T	ENSP00000221363.4:p.Val350Phe
ENST00000456935.6:c.1051G>T	ENSP00000395473.2:p.Val351Phe
ENST00000465830.1:n.132G>T
ENST00000466794.5:n.1009-142G>T
ENST00000495617.1:n.280+245G>T
NM_000528.3:c.1051G>T	NP_000519.2:p.Val351Phe
NM_001173498.1:c.1048G>T	NP_001166969.1:p.Val350Phe
XM_005259913.1:c.1054G>T	XP_005259970.1:p.Val352Phe
XM_011528017.1:c.9-142G>T	XP_011526319.1:n.9-142G>T
XM_005259913.2:c.1054G>T	XP_005259970.1:p.Val352Phe
XM_024451518.1:c.9-142G>T	XP_024307286.1:n.9-142G>T
NM_000528.4:c.1051G>T MANE Select	NP_000519.2:p.Val351Phe
NM_001173498.2:c.1048G>T	NP_001166969.1:p.Val350Phe