Canonical Allele Identifier: CA366425067

Gene: TTLL2

Linked Data

• dbSNP Id: rs34931196
• gnomAD v2: 6-167755063-G-C
• gnomAD v4: 6-167341575-G-C
• MyVariant Identifiers: chr6:g.167755063G>C (hg19) ; chr6:g.167341575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341575G>C , CM000668.2:g.167341575G>C	GRCh38
NC_000006.11:g.167755063G>C , CM000668.1:g.167755063G>C	GRCh37
NC_000006.10:g.167675053G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1675G>C MANE Select	ENSP00000239587.5:p.Val559Leu
ENST00000649884.1:c.1456G>C	ENSP00000497040.1:p.Val486Leu
ENST00000239587.9:c.1675G>C	ENSP00000239587.5:p.Val559Leu
ENST00000515138.1:c.1675G>C	ENSP00000424130.1:p.Val559Leu
NM_031949.4:c.1675G>C	NP_114155.4:p.Val559Leu
XM_006715572.2:c.1456G>C	XP_006715635.1:p.Val486Leu
XM_006715572.4:c.1456G>C	XP_006715635.1:p.Val486Leu
NM_031949.5:c.1675G>C MANE Select	NP_114155.4:p.Val559Leu