Canonical Allele Identifier: CA571943498

Gene: TTLL2

Linked Data

• dbSNP Id: rs1432582801
• gnomAD v2: 6-167755004-C-CGT
• gnomAD v3: 6-167341516-C-CGT
• gnomAD v4: 6-167341516-C-CGT
• MyVariant Identifiers: chr6:g.167755004_167755005insGT (hg19) ; chr6:g.167341516_167341517insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341521_167341522dup , CM000668.2:g.167341521_167341522dup	GRCh38
NC_000006.11:g.167755009_167755010dup , CM000668.1:g.167755009_167755010dup	GRCh37
NC_000006.10:g.167674999_167675000dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1621_1622dup MANE Select	ENSP00000239587.5:p.Leu542SerfsTer?
ENST00000649884.1:c.1402_1403dup	ENSP00000497040.1:p.Leu469SerfsTer?
ENST00000239587.9:c.1621_1622dup	ENSP00000239587.5:p.Leu542SerfsTer?
ENST00000515138.1:c.1621_1622dup	ENSP00000424130.1:p.Leu542SerfsTer?
NM_031949.4:c.1621_1622dup	NP_114155.4:p.Leu542SerfsTer?
XM_006715572.2:c.1402_1403dup	XP_006715635.1:p.Leu469SerfsTer?
XM_006715572.4:c.1402_1403dup	XP_006715635.1:p.Leu469SerfsTer?
NM_031949.5:c.1621_1622dup MANE Select	NP_114155.4:p.Leu542SerfsTer?