Canonical Allele Identifier: CA453304984

Gene: TTLL2

Linked Data

• dbSNP Id: rs1779084503
• gnomAD v3: 6-167341073-A-G
• gnomAD v4: 6-167341073-A-G
• MyVariant Identifiers: chr6:g.167754561A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341073A>G , CM000668.2:g.167341073A>G	GRCh38
NC_000006.11:g.167754561A>G , CM000668.1:g.167754561A>G	GRCh37
NC_000006.10:g.167674551A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1173A>G MANE Select	ENSP00000239587.5:p.Pro391=
ENST00000649884.1:c.954A>G	ENSP00000497040.1:p.Pro318=
ENST00000239587.9:c.1173A>G	ENSP00000239587.5:p.Pro391=
ENST00000515138.1:c.1173A>G	ENSP00000424130.1:p.Pro391=
NM_031949.4:c.1173A>G	NP_114155.4:p.Pro391=
XM_006715572.2:c.954A>G	XP_006715635.1:p.Pro318=
XM_006715572.4:c.954A>G	XP_006715635.1:p.Pro318=
NM_031949.5:c.1173A>G MANE Select	NP_114155.4:p.Pro391=