Canonical Allele Identifier: CA366425214

Gene: TTLL2

Linked Data

• gnomAD v4: 6-167341641-C-T
• MyVariant Identifiers: chr6:g.167755129C>T (hg19) ; chr6:g.167341641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341641C>T , CM000668.2:g.167341641C>T	GRCh38
NC_000006.11:g.167755129C>T , CM000668.1:g.167755129C>T	GRCh37
NC_000006.10:g.167675119C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1741C>T MANE Select	ENSP00000239587.5:p.Gln581Ter
ENST00000649884.1:c.1522C>T	ENSP00000497040.1:p.Gln508Ter
ENST00000239587.9:c.1741C>T	ENSP00000239587.5:p.Gln581Ter
ENST00000515138.1:c.1741C>T	ENSP00000424130.1:p.Gln581Ter
NM_031949.4:c.1741C>T	NP_114155.4:p.Gln581Ter
XM_006715572.2:c.1522C>T	XP_006715635.1:p.Gln508Ter
XM_006715572.4:c.1522C>T	XP_006715635.1:p.Gln508Ter
NM_031949.5:c.1741C>T MANE Select	NP_114155.4:p.Gln581Ter