Canonical Allele Identifier: CA349635763

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179486382G>C (hg19) ; chr2:g.178621655G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621655G>C , CM000664.2:g.178621655G>C	GRCh38
NC_000002.11:g.179486382G>C , CM000664.1:g.179486382G>C	GRCh37
NC_000002.10:g.179194627G>C	NCBI36
NG_011618.3:g.214148C>G , LRG_391:g.214148C>G
NG_051363.1:g.103829G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37465C>G	ENSP00000343764.6:p.Pro12489Ala
ENST00000342175.11:c.18550C>G	ENSP00000340554.6:p.Pro6184Ala
ENST00000359218.10:c.18349C>G	ENSP00000352154.5:p.Pro6117Ala
ENST00000342175.10:c.18550C>G	ENSP00000340554.6:p.Pro6184Ala
ENST00000342992.10:c.37465C>G	ENSP00000343764.6:p.Pro12489Ala
ENST00000359218.9:c.18349C>G	ENSP00000352154.5:p.Pro6117Ala
ENST00000460472.6:c.17974C>G	ENSP00000434586.1:p.Pro5992Ala
ENST00000589042.5:c.45169C>G MANE Select	ENSP00000467141.1:p.Pro15057Ala
ENST00000591111.5:c.40246C>G	ENSP00000465570.1:p.Pro13416Ala
ENST00000615779.4:c.40246C>G	ENSP00000483597.1:p.Pro13416Ala
NM_001256850.1:c.40246C>G	NP_001243779.1:p.Pro13416Ala
NM_001267550.2:c.45169C>G MANE Select	NP_001254479.2:p.Pro15057Ala
NM_003319.4:c.17974C>G	NP_003310.4:p.Pro5992Ala
NM_133378.4:c.37465C>G	NP_596869.4:p.Pro12489Ala
NM_133432.3:c.18349C>G	NP_597676.3:p.Pro6117Ala
NM_133437.4:c.18550C>G	NP_597681.4:p.Pro6184Ala
XM_011511729.1:c.44266C>G	XP_011510031.1:p.Pro14756Ala
XM_011511730.1:c.18160C>G	XP_011510032.1:p.Pro6054Ala
XM_011511731.1:c.18019C>G	XP_011510033.1:p.Pro6007Ala
XM_017004819.1:c.44062C>G	XP_016860308.1:p.Pro14688Ala
XM_017004820.1:c.39460C>G	XP_016860309.1:p.Pro13154Ala
XM_017004821.1:c.39457C>G	XP_016860310.1:p.Pro13153Ala
XM_017004822.1:c.36499C>G	XP_016860311.1:p.Pro12167Ala
XM_017004823.1:c.18115C>G	XP_016860312.1:p.Pro6039Ala
XM_024453094.1:c.39610C>G	XP_024308862.1:p.Pro13204Ala
XM_024453095.1:c.39607C>G	XP_024308863.1:p.Pro13203Ala
XM_024453096.1:c.39040C>G	XP_024308864.1:p.Pro13014Ala
XM_024453097.1:c.36382C>G	XP_024308865.1:p.Pro12128Ala
XM_024453098.1:c.36301C>G	XP_024308866.1:p.Pro12101Ala
XM_024453099.1:c.18064C>G	XP_024308867.1:p.Pro6022Ala
XM_024453100.1:c.7918C>G	XP_024308868.1:p.Pro2640Ala