Canonical Allele Identifier: CA404248828

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658483-G-A
• MyVariant Identifiers: chr19:g.12769297G>A (hg19) ; chr19:g.12658483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658483G>A , CM000681.2:g.12658483G>A	GRCh38
NC_000019.9:g.12769297G>A , CM000681.1:g.12769297G>A	GRCh37
NC_000019.8:g.12630297G>A	NCBI36
NG_008318.1:g.13295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1054C>T MANE Select	ENSP00000395473.2:p.Leu352Phe
ENST00000221363.8:c.1051C>T	ENSP00000221363.4:p.Leu351Phe
ENST00000456935.6:c.1054C>T	ENSP00000395473.2:p.Leu352Phe
ENST00000465830.1:n.135C>T
ENST00000466794.5:n.1009-139C>T
ENST00000495617.1:n.280+248C>T
NM_000528.3:c.1054C>T	NP_000519.2:p.Leu352Phe
NM_001173498.1:c.1051C>T	NP_001166969.1:p.Leu351Phe
XM_005259913.1:c.1057C>T	XP_005259970.1:p.Leu353Phe
XM_011528017.1:c.9-139C>T	XP_011526319.1:n.9-139C>T
XM_005259913.2:c.1057C>T	XP_005259970.1:p.Leu353Phe
XM_024451518.1:c.9-139C>T	XP_024307286.1:n.9-139C>T
NM_000528.4:c.1054C>T MANE Select	NP_000519.2:p.Leu352Phe
NM_001173498.2:c.1051C>T	NP_001166969.1:p.Leu351Phe