Canonical Allele Identifier: CA453305015

Gene: TTLL2

Linked Data

• dbSNP Id: rs1779085027
• gnomAD v3: 6-167341091-T-C
• gnomAD v4: 6-167341091-T-C
• COSMIC: COSM3622855
• MyVariant Identifiers: chr6:g.167754579T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341091T>C , CM000668.2:g.167341091T>C	GRCh38
NC_000006.11:g.167754579T>C , CM000668.1:g.167754579T>C	GRCh37
NC_000006.10:g.167674569T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1191T>C MANE Select	ENSP00000239587.5:p.Cys397=
ENST00000649884.1:c.972T>C	ENSP00000497040.1:p.Cys324=
ENST00000239587.9:c.1191T>C	ENSP00000239587.5:p.Cys397=
ENST00000515138.1:c.1191T>C	ENSP00000424130.1:p.Cys397=
NM_031949.4:c.1191T>C	NP_114155.4:p.Cys397=
XM_006715572.2:c.972T>C	XP_006715635.1:p.Cys324=
XM_006715572.4:c.972T>C	XP_006715635.1:p.Cys324=
NM_031949.5:c.1191T>C MANE Select	NP_114155.4:p.Cys397=