Canonical Allele Identifier: CA404252911

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12774598C>T (hg19) ; chr19:g.12663784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663784C>T , CM000681.2:g.12663784C>T	GRCh38
NC_000019.9:g.12774598C>T , CM000681.1:g.12774598C>T	GRCh37
NC_000019.8:g.12635598C>T	NCBI36
NG_008318.1:g.7994G>A
NG_015814.1:g.1981C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.682G>A MANE Select	ENSP00000395473.2:p.Val228Ile
ENST00000221363.8:c.682G>A	ENSP00000221363.4:p.Val228Ile
ENST00000456935.6:c.682G>A	ENSP00000395473.2:p.Val228Ile
ENST00000466794.5:n.664G>A
ENST00000486847.2:c.385G>A	ENSP00000470174.1:p.Val129Ile
NM_000528.3:c.682G>A	NP_000519.2:p.Val228Ile
NM_001173498.1:c.682G>A	NP_001166969.1:p.Val228Ile
XM_005259913.1:c.682G>A	XP_005259970.1:p.Val228Ile
XM_005259913.2:c.682G>A	XP_005259970.1:p.Val228Ile
XM_024451518.1:c.-337G>A	XP_024307286.1:n.-337G>A
NM_000528.4:c.682G>A MANE Select	NP_000519.2:p.Val228Ile
NM_001173498.2:c.682G>A	NP_001166969.1:p.Val228Ile