Canonical Allele Identifier: CA572350552

Gene: TTLL2

Linked Data

• dbSNP Id: rs1378701998
• gnomAD v2: 6-167754613-CATG-C
• gnomAD v3: 6-167341125-CATG-C
• gnomAD v4: 6-167341125-CATG-C
• MyVariant Identifiers: chr6:g.167754614_167754616del (hg19) ; chr6:g.167341126_167341128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341128_167341130del , CM000668.2:g.167341128_167341130del	GRCh38
NC_000006.11:g.167754616_167754618del , CM000668.1:g.167754616_167754618del	GRCh37
NC_000006.10:g.167674606_167674608del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1228_1230del MANE Select	ENSP00000239587.5:p.Asp410del
ENST00000649884.1:c.1009_1011del	ENSP00000497040.1:p.Asp337del
ENST00000239587.9:c.1228_1230del	ENSP00000239587.5:p.Asp410del
ENST00000515138.1:c.1228_1230del	ENSP00000424130.1:p.Asp410del
NM_031949.4:c.1228_1230del	NP_114155.4:p.Asp410del
XM_006715572.2:c.1009_1011del	XP_006715635.1:p.Asp337del
XM_006715572.4:c.1009_1011del	XP_006715635.1:p.Asp337del
NM_031949.5:c.1228_1230del MANE Select	NP_114155.4:p.Asp410del