Canonical Allele Identifier: CA404246134

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12767776T>A (hg19) ; chr19:g.12656962T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656962T>A , CM000681.2:g.12656962T>A	GRCh38
NC_000019.9:g.12767776T>A , CM000681.1:g.12767776T>A	GRCh37
NC_000019.8:g.12628776T>A	NCBI36
NG_008318.1:g.14816A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1514A>T MANE Select	ENSP00000395473.2:p.Gln505Leu
ENST00000221363.8:c.1511A>T	ENSP00000221363.4:p.Gln504Leu
ENST00000433513.5:n.120A>T
ENST00000456935.6:c.1514A>T	ENSP00000395473.2:p.Gln505Leu
ENST00000466794.5:n.1413A>T
ENST00000495617.1:n.690A>T
ENST00000593686.1:c.124A>T
ENST00000595880.5:n.111A>T
NM_000528.3:c.1514A>T	NP_000519.2:p.Gln505Leu
NM_001173498.1:c.1511A>T	NP_001166969.1:p.Gln504Leu
XM_005259913.1:c.1517A>T	XP_005259970.1:p.Gln506Leu
XM_011528017.1:c.413A>T	XP_011526319.1:p.Gln138Leu
XM_005259913.2:c.1517A>T	XP_005259970.1:p.Gln506Leu
XM_024451518.1:c.413A>T	XP_024307286.1:p.Gln138Leu
NM_000528.4:c.1514A>T MANE Select	NP_000519.2:p.Gln505Leu
NM_001173498.2:c.1511A>T	NP_001166969.1:p.Gln504Leu