Canonical Allele Identifier: CA4097489

Gene: TTLL2

Linked Data

• dbSNP Id: rs759827189
• ExAC: 6:167754575 AT / A
• gnomAD v2: 6-167754575-AT-A
• gnomAD v4: 6-167341087-AT-A
• MyVariant Identifiers: chr6:g.167754576del (hg19) ; chr6:g.167341088del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341089del , CM000668.2:g.167341089del	GRCh38
NC_000006.11:g.167754577del , CM000668.1:g.167754577del	GRCh37
NC_000006.10:g.167674567del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1189del MANE Select	ENSP00000239587.5:p.Cys397ValfsTer7
ENST00000649884.1:c.970del	ENSP00000497040.1:p.Cys324ValfsTer7
ENST00000239587.9:c.1189del	ENSP00000239587.5:p.Cys397ValfsTer7
ENST00000515138.1:c.1189del	ENSP00000424130.1:p.Cys397ValfsTer7
NM_031949.4:c.1189del	NP_114155.4:p.Cys397ValfsTer7
XM_006715572.2:c.970del	XP_006715635.1:p.Cys324ValfsTer7
XM_006715572.4:c.970del	XP_006715635.1:p.Cys324ValfsTer7
NM_031949.5:c.1189del MANE Select	NP_114155.4:p.Cys397ValfsTer7