Canonical Allele Identifier: CA1995704

Gene: TTN

Linked Data

• dbSNP Id: rs192766485
• ExAC: 2:179494968 G / T
• gnomAD v2: 2-179494968-G-T
• gnomAD v3: 2-178630241-G-T
• gnomAD v4: 2-178630241-G-T
• MyVariant Identifiers: chr2:g.179494968G>T (hg19) ; chr2:g.178630241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630241G>T , CM000664.2:g.178630241G>T	GRCh38
NC_000002.11:g.179494968G>T , CM000664.1:g.179494968G>T	GRCh37
NC_000002.10:g.179203213G>T	NCBI36
NG_011618.3:g.205562C>A , LRG_391:g.205562C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36577C>A	ENSP00000343764.6:p.Pro12193Thr
ENST00000342175.11:c.17662C>A	ENSP00000340554.6:p.Pro5888Thr
ENST00000359218.10:c.17461C>A	ENSP00000352154.5:p.Pro5821Thr
ENST00000342175.10:c.17662C>A	ENSP00000340554.6:p.Pro5888Thr
ENST00000342992.10:c.36577C>A	ENSP00000343764.6:p.Pro12193Thr
ENST00000359218.9:c.17461C>A	ENSP00000352154.5:p.Pro5821Thr
ENST00000460472.6:c.17086C>A	ENSP00000434586.1:p.Pro5696Thr
ENST00000589042.5:c.44281C>A MANE Select	ENSP00000467141.1:p.Pro14761Thr
ENST00000591111.5:c.39358C>A	ENSP00000465570.1:p.Pro13120Thr
ENST00000615779.4:c.39358C>A	ENSP00000483597.1:p.Pro13120Thr
NM_001256850.1:c.39358C>A	NP_001243779.1:p.Pro13120Thr
NM_001267550.2:c.44281C>A MANE Select	NP_001254479.2:p.Pro14761Thr
NM_003319.4:c.17086C>A	NP_003310.4:p.Pro5696Thr
NM_133378.4:c.36577C>A	NP_596869.4:p.Pro12193Thr
NM_133432.3:c.17461C>A	NP_597676.3:p.Pro5821Thr
NM_133437.4:c.17662C>A	NP_597681.4:p.Pro5888Thr
XM_011511729.1:c.43378C>A	XP_011510031.1:p.Pro14460Thr
XM_011511730.1:c.17272C>A	XP_011510032.1:p.Pro5758Thr
XM_011511731.1:c.17131C>A	XP_011510033.1:p.Pro5711Thr
XM_017004819.1:c.43174C>A	XP_016860308.1:p.Pro14392Thr
XM_017004820.1:c.38572C>A	XP_016860309.1:p.Pro12858Thr
XM_017004821.1:c.38569C>A	XP_016860310.1:p.Pro12857Thr
XM_017004822.1:c.35611C>A	XP_016860311.1:p.Pro11871Thr
XM_017004823.1:c.17227C>A	XP_016860312.1:p.Pro5743Thr
XM_024453094.1:c.38722C>A	XP_024308862.1:p.Pro12908Thr
XM_024453095.1:c.38719C>A	XP_024308863.1:p.Pro12907Thr
XM_024453096.1:c.38152C>A	XP_024308864.1:p.Pro12718Thr
XM_024453097.1:c.35494C>A	XP_024308865.1:p.Pro11832Thr
XM_024453098.1:c.35413C>A	XP_024308866.1:p.Pro11805Thr
XM_024453099.1:c.17176C>A	XP_024308867.1:p.Pro5726Thr
XM_024453100.1:c.7030C>A	XP_024308868.1:p.Pro2344Thr