Canonical Allele Identifier: CA631835350

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1261268308
• gnomAD v2: 19-12768090-CGTT-C
• gnomAD v3: 19-12657276-CGTT-C
• gnomAD v4: 19-12657276-CGTT-C
• MyVariant Identifiers: chr19:g.12768091_12768093del (hg19) ; chr19:g.12657277_12657279del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657277_12657279del , CM000681.2:g.12657277_12657279del	GRCh38
NC_000019.9:g.12768091_12768093del , CM000681.1:g.12768091_12768093del	GRCh37
NC_000019.8:g.12629091_12629093del	NCBI36
NG_008318.1:g.14499_14501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+167_1419+169del MANE Select	ENSP00000395473.2:n.1419+167_1419+169del
ENST00000221363.8:c.1416+167_1416+169del	ENSP00000221363.4:n.1416+167_1416+169del
ENST00000456935.6:c.1419+167_1419+169del	ENSP00000395473.2:n.1419+167_1419+169del
ENST00000466794.5:n.1318+167_1318+169del
ENST00000495617.1:n.595+167_595+169del
ENST00000593686.1:c.29+167_29+169del
ENST00000595880.5:n.16+85_16+87del
NM_000528.3:c.1419+167_1419+169del	NP_000519.2:n.1419+167_1419+169del
NM_001173498.1:c.1416+167_1416+169del	NP_001166969.1:n.1416+167_1416+169del
XM_005259913.1:c.1422+167_1422+169del	XP_005259970.1:n.1422+167_1422+169del
XM_011528017.1:c.318+167_318+169del	XP_011526319.1:n.318+167_318+169del
XM_005259913.2:c.1422+167_1422+169del	XP_005259970.1:n.1422+167_1422+169del
XM_024451518.1:c.318+167_318+169del	XP_024307286.1:n.318+167_318+169del
NM_000528.4:c.1419+167_1419+169del MANE Select	NP_000519.2:n.1419+167_1419+169del
NM_001173498.2:c.1416+167_1416+169del	NP_001166969.1:n.1416+167_1416+169del