Canonical Allele Identifier: CA404244793

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12655750-C-A
• MyVariant Identifiers: chr19:g.12766564C>A (hg19) ; chr19:g.12655750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655750C>A , CM000681.2:g.12655750C>A	GRCh38
NC_000019.9:g.12766564C>A , CM000681.1:g.12766564C>A	GRCh37
NC_000019.8:g.12627564C>A	NCBI36
NG_008318.1:g.16028G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1774G>T MANE Select	ENSP00000395473.2:p.Ala592Ser
ENST00000221363.8:c.1771G>T	ENSP00000221363.4:p.Ala591Ser
ENST00000433513.5:n.380G>T
ENST00000456935.6:c.1774G>T	ENSP00000395473.2:p.Ala592Ser
ENST00000466794.5:n.2364G>T
ENST00000593686.1:c.367G>T
ENST00000595880.5:n.371G>T
ENST00000596591.1:c.138G>T
NM_000528.3:c.1774G>T	NP_000519.2:p.Ala592Ser
NM_001173498.1:c.1771G>T	NP_001166969.1:p.Ala591Ser
XM_005259913.1:c.1777G>T	XP_005259970.1:p.Ala593Ser
XM_011528017.1:c.673G>T	XP_011526319.1:p.Ala225Ser
XM_005259913.2:c.1777G>T	XP_005259970.1:p.Ala593Ser
XM_024451518.1:c.673G>T	XP_024307286.1:p.Ala225Ser
NM_000528.4:c.1774G>T MANE Select	NP_000519.2:p.Ala592Ser
NM_001173498.2:c.1771G>T	NP_001166969.1:p.Ala591Ser