Canonical Allele Identifier: CA350995

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657507G>A , CM000681.2:g.12657507G>A	GRCh38
NC_000019.9:g.12768321G>A , CM000681.1:g.12768321G>A	GRCh37
NC_000019.8:g.12629321G>A	NCBI36
NG_008318.1:g.14271C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1358C>T MANE Select	NP_000519.2:p.Ser453Phe
ENST00000456935.7:c.1358C>T MANE Select	ENSP00000395473.2:p.Ser453Phe
NM_000528.3:c.1358C>T	NP_000519.2:p.Ser453Phe
NM_001173498.1:c.1355C>T	NP_001166969.1:p.Ser452Phe
NM_001173498.2:c.1355C>T	NP_001166969.1:p.Ser452Phe
ENST00000221363.8:c.1355C>T	ENSP00000221363.4:p.Ser452Phe
ENST00000456935.6:c.1358C>T	ENSP00000395473.2:p.Ser453Phe
ENST00000465830.1:n.522C>T
ENST00000466794.5:n.1257C>T
ENST00000495617.1:n.534C>T
XM_005259913.1:c.1361C>T	XP_005259970.1:p.Ser454Phe
XM_005259913.2:c.1361C>T	XP_005259970.1:p.Ser454Phe
XM_011528017.1:c.257C>T	XP_011526319.1:p.Ser86Phe
XM_024451518.1:c.257C>T	XP_024307286.1:p.Ser86Phe