Canonical Allele Identifier: CA404246280

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12656992-T-A
• MyVariant Identifiers: chr19:g.12767806T>A (hg19) ; chr19:g.12656992T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656992T>A , CM000681.2:g.12656992T>A	GRCh38
NC_000019.9:g.12767806T>A , CM000681.1:g.12767806T>A	GRCh37
NC_000019.8:g.12628806T>A	NCBI36
NG_008318.1:g.14786A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1484A>T MANE Select	ENSP00000395473.2:p.Gln495Leu
ENST00000221363.8:c.1481A>T	ENSP00000221363.4:p.Gln494Leu
ENST00000433513.5:n.90A>T
ENST00000456935.6:c.1484A>T	ENSP00000395473.2:p.Gln495Leu
ENST00000466794.5:n.1383A>T
ENST00000495617.1:n.660A>T
ENST00000593686.1:c.94A>T
ENST00000595880.5:n.81A>T
NM_000528.3:c.1484A>T	NP_000519.2:p.Gln495Leu
NM_001173498.1:c.1481A>T	NP_001166969.1:p.Gln494Leu
XM_005259913.1:c.1487A>T	XP_005259970.1:p.Gln496Leu
XM_011528017.1:c.383A>T	XP_011526319.1:p.Gln128Leu
XM_005259913.2:c.1487A>T	XP_005259970.1:p.Gln496Leu
XM_024451518.1:c.383A>T	XP_024307286.1:p.Gln128Leu
NM_000528.4:c.1484A>T MANE Select	NP_000519.2:p.Gln495Leu
NM_001173498.2:c.1481A>T	NP_001166969.1:p.Gln494Leu