Canonical Allele Identifier: CA404254899

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12775700A>T (hg19) ; chr19:g.12664886A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664886A>T , CM000681.2:g.12664886A>T	GRCh38
NC_000019.9:g.12775700A>T , CM000681.1:g.12775700A>T	GRCh37
NC_000019.8:g.12636700A>T	NCBI36
NG_008318.1:g.6892T>A
NG_015814.1:g.3083A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.536T>A MANE Select	ENSP00000395473.2:p.Leu179Gln
ENST00000221363.8:c.536T>A	ENSP00000221363.4:p.Leu179Gln
ENST00000456935.6:c.536T>A	ENSP00000395473.2:p.Leu179Gln
ENST00000466794.5:n.518T>A
ENST00000486847.2:c.333+466T>A	ENSP00000470174.1:n.333+466T>A
ENST00000596512.5:n.474T>A
ENST00000597961.1:c.527T>A	ENSP00000472710.1:p.Leu176Gln
NM_000528.3:c.536T>A	NP_000519.2:p.Leu179Gln
NM_001173498.1:c.536T>A	NP_001166969.1:p.Leu179Gln
XM_005259913.1:c.536T>A	XP_005259970.1:p.Leu179Gln
XM_005259913.2:c.536T>A	XP_005259970.1:p.Leu179Gln
XM_024451518.1:c.-483T>A	XP_024307286.1:n.-483T>A
NM_000528.4:c.536T>A MANE Select	NP_000519.2:p.Leu179Gln
NM_001173498.2:c.536T>A	NP_001166969.1:p.Leu179Gln