Canonical Allele Identifier: CA4097529

Gene: TTLL2

Linked Data

• dbSNP Id: rs753242295
• ExAC: 6:167754778 A / C
• gnomAD v2: 6-167754778-A-C
• MyVariant Identifiers: chr6:g.167754778A>C (hg19) ; chr6:g.167341290A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341290A>C , CM000668.2:g.167341290A>C	GRCh38
NC_000006.11:g.167754778A>C , CM000668.1:g.167754778A>C	GRCh37
NC_000006.10:g.167674768A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1390A>C MANE Select	ENSP00000239587.5:p.Met464Leu
ENST00000649884.1:c.1171A>C	ENSP00000497040.1:p.Met391Leu
ENST00000239587.9:c.1390A>C	ENSP00000239587.5:p.Met464Leu
ENST00000515138.1:c.1390A>C	ENSP00000424130.1:p.Met464Leu
NM_031949.4:c.1390A>C	NP_114155.4:p.Met464Leu
XM_006715572.2:c.1171A>C	XP_006715635.1:p.Met391Leu
XM_006715572.4:c.1171A>C	XP_006715635.1:p.Met391Leu
NM_031949.5:c.1390A>C MANE Select	NP_114155.4:p.Met464Leu