Canonical Allele Identifier: CA430276105

Gene: TTN

Linked Data

• gnomAD v4: 2-178621653-A-C
• MyVariant Identifiers: chr2:g.179486380A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621653A>C , CM000664.2:g.178621653A>C	GRCh38
NC_000002.11:g.179486380A>C , CM000664.1:g.179486380A>C	GRCh37
NC_000002.10:g.179194625A>C	NCBI36
NG_011618.3:g.214150T>G , LRG_391:g.214150T>G
NG_051363.1:g.103827A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.37467T>G	ENSP00000343764.6:p.Pro12489=
ENST00000342175.11:c.18552T>G	ENSP00000340554.6:p.Pro6184=
ENST00000359218.10:c.18351T>G	ENSP00000352154.5:p.Pro6117=
ENST00000342175.10:c.18552T>G	ENSP00000340554.6:p.Pro6184=
ENST00000342992.10:c.37467T>G	ENSP00000343764.6:p.Pro12489=
ENST00000359218.9:c.18351T>G	ENSP00000352154.5:p.Pro6117=
ENST00000460472.6:c.17976T>G	ENSP00000434586.1:p.Pro5992=
ENST00000589042.5:c.45171T>G MANE Select	ENSP00000467141.1:p.Pro15057=
ENST00000591111.5:c.40248T>G	ENSP00000465570.1:p.Pro13416=
ENST00000615779.4:c.40248T>G	ENSP00000483597.1:p.Pro13416=
NM_001256850.1:c.40248T>G	NP_001243779.1:p.Pro13416=
NM_001267550.2:c.45171T>G MANE Select	NP_001254479.2:p.Pro15057=
NM_003319.4:c.17976T>G	NP_003310.4:p.Pro5992=
NM_133378.4:c.37467T>G	NP_596869.4:p.Pro12489=
NM_133432.3:c.18351T>G	NP_597676.3:p.Pro6117=
NM_133437.4:c.18552T>G	NP_597681.4:p.Pro6184=
XM_011511729.1:c.44268T>G	XP_011510031.1:p.Pro14756=
XM_011511730.1:c.18162T>G	XP_011510032.1:p.Pro6054=
XM_011511731.1:c.18021T>G	XP_011510033.1:p.Pro6007=
XM_017004819.1:c.44064T>G	XP_016860308.1:p.Pro14688=
XM_017004820.1:c.39462T>G	XP_016860309.1:p.Pro13154=
XM_017004821.1:c.39459T>G	XP_016860310.1:p.Pro13153=
XM_017004822.1:c.36501T>G	XP_016860311.1:p.Pro12167=
XM_017004823.1:c.18117T>G	XP_016860312.1:p.Pro6039=
XM_024453094.1:c.39612T>G	XP_024308862.1:p.Pro13204=
XM_024453095.1:c.39609T>G	XP_024308863.1:p.Pro13203=
XM_024453096.1:c.39042T>G	XP_024308864.1:p.Pro13014=
XM_024453097.1:c.36384T>G	XP_024308865.1:p.Pro12128=
XM_024453098.1:c.36303T>G	XP_024308866.1:p.Pro12101=
XM_024453099.1:c.18066T>G	XP_024308867.1:p.Pro6022=
XM_024453100.1:c.7920T>G	XP_024308868.1:p.Pro2640=