Canonical Allele Identifier: CA366424327

Gene: TTLL2

Linked Data

• dbSNP Id: rs1270131939
• gnomAD v2: 6-167754718-A-G
• gnomAD v4: 6-167341230-A-G
• MyVariant Identifiers: chr6:g.167754718A>G (hg19) ; chr6:g.167341230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341230A>G , CM000668.2:g.167341230A>G	GRCh38
NC_000006.11:g.167754718A>G , CM000668.1:g.167754718A>G	GRCh37
NC_000006.10:g.167674708A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1330A>G MANE Select	ENSP00000239587.5:p.Arg444Gly
ENST00000649884.1:c.1111A>G	ENSP00000497040.1:p.Arg371Gly
ENST00000239587.9:c.1330A>G	ENSP00000239587.5:p.Arg444Gly
ENST00000515138.1:c.1330A>G	ENSP00000424130.1:p.Arg444Gly
NM_031949.4:c.1330A>G	NP_114155.4:p.Arg444Gly
XM_006715572.2:c.1111A>G	XP_006715635.1:p.Arg371Gly
XM_006715572.4:c.1111A>G	XP_006715635.1:p.Arg371Gly
NM_031949.5:c.1330A>G MANE Select	NP_114155.4:p.Arg444Gly