Canonical Allele Identifier: CA631835337

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1385680537
• gnomAD v2: 19-12768066-CTT-C
• gnomAD v3: 19-12657252-CTT-C
• gnomAD v4: 19-12657252-CTT-C
• MyVariant Identifiers: chr19:g.12768067_12768068del (hg19) ; chr19:g.12657253_12657254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657253_12657254del , CM000681.2:g.12657253_12657254del	GRCh38
NC_000019.9:g.12768067_12768068del , CM000681.1:g.12768067_12768068del	GRCh37
NC_000019.8:g.12629067_12629068del	NCBI36
NG_008318.1:g.14524_14525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+192_1419+193del MANE Select	ENSP00000395473.2:n.1419+192_1419+193del
ENST00000221363.8:c.1416+192_1416+193del	ENSP00000221363.4:n.1416+192_1416+193del
ENST00000456935.6:c.1419+192_1419+193del	ENSP00000395473.2:n.1419+192_1419+193del
ENST00000466794.5:n.1318+192_1318+193del
ENST00000495617.1:n.595+192_595+193del
ENST00000593686.1:c.29+192_29+193del
ENST00000595880.5:n.16+110_16+111del
NM_000528.3:c.1419+192_1419+193del	NP_000519.2:n.1419+192_1419+193del
NM_001173498.1:c.1416+192_1416+193del	NP_001166969.1:n.1416+192_1416+193del
XM_005259913.1:c.1422+192_1422+193del	XP_005259970.1:n.1422+192_1422+193del
XM_011528017.1:c.318+192_318+193del	XP_011526319.1:n.318+192_318+193del
XM_005259913.2:c.1422+192_1422+193del	XP_005259970.1:n.1422+192_1422+193del
XM_024451518.1:c.318+192_318+193del	XP_024307286.1:n.318+192_318+193del
NM_000528.4:c.1419+192_1419+193del MANE Select	NP_000519.2:n.1419+192_1419+193del
NM_001173498.2:c.1416+192_1416+193del	NP_001166969.1:n.1416+192_1416+193del