Canonical Allele Identifier: CA366423925

Gene: TTLL2

Linked Data

• dbSNP Id: rs1394612206
• gnomAD v3: 6-167341048-G-A
• gnomAD v4: 6-167341048-G-A
• MyVariant Identifiers: chr6:g.167754536G>A (hg19) ; chr6:g.167341048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341048G>A , CM000668.2:g.167341048G>A	GRCh38
NC_000006.11:g.167754536G>A , CM000668.1:g.167754536G>A	GRCh37
NC_000006.10:g.167674526G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1148G>A MANE Select	ENSP00000239587.5:p.Trp383Ter
ENST00000649884.1:c.929G>A	ENSP00000497040.1:p.Trp310Ter
ENST00000239587.9:c.1148G>A	ENSP00000239587.5:p.Trp383Ter
ENST00000515138.1:c.1148G>A	ENSP00000424130.1:p.Trp383Ter
NM_031949.4:c.1148G>A	NP_114155.4:p.Trp383Ter
XM_006715572.2:c.929G>A	XP_006715635.1:p.Trp310Ter
XM_006715572.4:c.929G>A	XP_006715635.1:p.Trp310Ter
NM_031949.5:c.1148G>A MANE Select	NP_114155.4:p.Trp383Ter