Canonical Allele Identifier: CA404254125

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12775607T>A (hg19) ; chr19:g.12664793T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664793T>A , CM000681.2:g.12664793T>A	GRCh38
NC_000019.9:g.12775607T>A , CM000681.1:g.12775607T>A	GRCh37
NC_000019.8:g.12636607T>A	NCBI36
NG_008318.1:g.6985A>T
NG_015814.1:g.2990T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.629A>T MANE Select	ENSP00000395473.2:p.Gln210Leu
ENST00000221363.8:c.629A>T	ENSP00000221363.4:p.Gln210Leu
ENST00000456935.6:c.629A>T	ENSP00000395473.2:p.Gln210Leu
ENST00000466794.5:n.611A>T
ENST00000486847.2:c.333+559A>T	ENSP00000470174.1:n.333+559A>T
NM_000528.3:c.629A>T	NP_000519.2:p.Gln210Leu
NM_001173498.1:c.629A>T	NP_001166969.1:p.Gln210Leu
XM_005259913.1:c.629A>T	XP_005259970.1:p.Gln210Leu
XM_005259913.2:c.629A>T	XP_005259970.1:p.Gln210Leu
XM_024451518.1:c.-390A>T	XP_024307286.1:n.-390A>T
NM_000528.4:c.629A>T MANE Select	NP_000519.2:p.Gln210Leu
NM_001173498.2:c.629A>T	NP_001166969.1:p.Gln210Leu