Canonical Allele Identifier: CA404253002

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12774619G>T (hg19) ; chr19:g.12663805G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663805G>T , CM000681.2:g.12663805G>T	GRCh38
NC_000019.9:g.12774619G>T , CM000681.1:g.12774619G>T	GRCh37
NC_000019.8:g.12635619G>T	NCBI36
NG_008318.1:g.7973C>A
NG_015814.1:g.2002G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.661C>A MANE Select	ENSP00000395473.2:p.Leu221Ile
ENST00000221363.8:c.661C>A	ENSP00000221363.4:p.Leu221Ile
ENST00000456935.6:c.661C>A	ENSP00000395473.2:p.Leu221Ile
ENST00000466794.5:n.643C>A
ENST00000486847.2:c.364C>A	ENSP00000470174.1:p.Leu122Ile
NM_000528.3:c.661C>A	NP_000519.2:p.Leu221Ile
NM_001173498.1:c.661C>A	NP_001166969.1:p.Leu221Ile
XM_005259913.1:c.661C>A	XP_005259970.1:p.Leu221Ile
XM_005259913.2:c.661C>A	XP_005259970.1:p.Leu221Ile
XM_024451518.1:c.-358C>A	XP_024307286.1:n.-358C>A
NM_000528.4:c.661C>A MANE Select	NP_000519.2:p.Leu221Ile
NM_001173498.2:c.661C>A	NP_001166969.1:p.Leu221Ile