Canonical Allele Identifier: CA505770648

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2777540
• ClinVar RCV Id: RCV003600497
• dbSNP Id: rs1274540268
• MyVariant Identifiers: chr19:g.12758126G>A (hg19) ; chr19:g.12647312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647312G>A , CM000681.2:g.12647312G>A	GRCh38
NC_000019.9:g.12758126G>A , CM000681.1:g.12758126G>A	GRCh37
NC_000019.8:g.12619126G>A	NCBI36
NG_008318.1:g.24466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2844C>T MANE Select	ENSP00000395473.2:p.Ile948=
ENST00000221363.8:c.2841C>T	ENSP00000221363.4:p.Ile947=
ENST00000456935.6:c.2844C>T	ENSP00000395473.2:p.Ile948=
ENST00000466794.5:n.3434C>T
ENST00000469423.1:n.273C>T
ENST00000493218.5:n.255C>T
ENST00000597692.1:c.403C>T
NM_000528.3:c.2844C>T	NP_000519.2:p.Ile948=
NM_001173498.1:c.2841C>T	NP_001166969.1:p.Ile947=
XM_005259913.1:c.2847C>T	XP_005259970.1:p.Ile949=
XM_011528017.1:c.1743C>T	XP_011526319.1:p.Ile581=
XM_005259913.2:c.2847C>T	XP_005259970.1:p.Ile949=
XM_024451518.1:c.1743C>T	XP_024307286.1:p.Ile581=
NM_000528.4:c.2844C>T MANE Select	NP_000519.2:p.Ile948=
NM_001173498.2:c.2841C>T	NP_001166969.1:p.Ile947=