Canonical Allele Identifier: CA366423962

Gene: TTLL2

Linked Data

• dbSNP Id: rs1445866962
• gnomAD v2: 6-167754552-C-A
• gnomAD v4: 6-167341064-C-A
• MyVariant Identifiers: chr6:g.167754552C>A (hg19) ; chr6:g.167341064C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341064C>A , CM000668.2:g.167341064C>A	GRCh38
NC_000006.11:g.167754552C>A , CM000668.1:g.167754552C>A	GRCh37
NC_000006.10:g.167674542C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1164C>A MANE Select	ENSP00000239587.5:p.Asn388Lys
ENST00000649884.1:c.945C>A	ENSP00000497040.1:p.Asn315Lys
ENST00000239587.9:c.1164C>A	ENSP00000239587.5:p.Asn388Lys
ENST00000515138.1:c.1164C>A	ENSP00000424130.1:p.Asn388Lys
NM_031949.4:c.1164C>A	NP_114155.4:p.Asn388Lys
XM_006715572.2:c.945C>A	XP_006715635.1:p.Asn315Lys
XM_006715572.4:c.945C>A	XP_006715635.1:p.Asn315Lys
NM_031949.5:c.1164C>A MANE Select	NP_114155.4:p.Asn388Lys