Canonical Allele Identifier: CA1989199

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 467536
• ClinVar RCV Id: RCV000532629 ; RCV000620567
• dbSNP Id: rs754325718
• ExAC: 2:179429342 G / C
• gnomAD v2: 2-179429342-G-C
• gnomAD v3: 2-178564615-G-C
• gnomAD v4: 2-178564615-G-C
• MyVariant Identifiers: chr2:g.179429342G>C (hg19) ; chr2:g.178564615G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564615G>C , CM000664.2:g.178564615G>C	GRCh38
NC_000002.11:g.179429342G>C , CM000664.1:g.179429342G>C	GRCh37
NC_000002.10:g.179137588G>C	NCBI36
NG_011618.3:g.271188C>G , LRG_391:g.271188C>G
NG_051363.1:g.46789G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73813C>G (TTN)	ENSP00000343764.6:p.Pro24605Ala
ENST00000342175.11:c.54898C>G (TTN)	ENSP00000340554.6:p.Pro18300Ala
ENST00000359218.10:c.54697C>G (TTN)	ENSP00000352154.5:p.Pro18233Ala
ENST00000342175.10:c.54898C>G (TTN)	ENSP00000340554.6:p.Pro18300Ala
ENST00000342992.10:c.73813C>G (TTN)	ENSP00000343764.6:p.Pro24605Ala
ENST00000359218.9:c.54697C>G (TTN)	ENSP00000352154.5:p.Pro18233Ala
ENST00000460472.6:c.54322C>G (TTN)	ENSP00000434586.1:p.Pro18108Ala
ENST00000589042.5:c.81517C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro27173Ala
ENST00000591111.5:c.76594C>G (TTN)	ENSP00000465570.1:p.Pro25532Ala
ENST00000615779.4:c.76594C>G (TTN)	ENSP00000483597.1:p.Pro25532Ala
NM_001256850.1:c.76594C>G (TTN)	NP_001243779.1:p.Pro25532Ala
NM_001267550.2:c.81517C>G (TTN) MANE Select	NP_001254479.2:p.Pro27173Ala
NM_003319.4:c.54322C>G (TTN)	NP_003310.4:p.Pro18108Ala
NM_133378.4:c.73813C>G (TTN)	NP_596869.4:p.Pro24605Ala
NM_133432.3:c.54697C>G (TTN)	NP_597676.3:p.Pro18233Ala
NM_133437.4:c.54898C>G (TTN)	NP_597681.4:p.Pro18300Ala
NR_038271.1:n.447-6685G>C (TTN-AS1)
NR_038272.1:n.2044-17957G>C (TTN-AS1)
XM_011511729.1:c.80614C>G (TTN)	XP_011510031.1:p.Pro26872Ala
XM_011511730.1:c.54508C>G (TTN)	XP_011510032.1:p.Pro18170Ala
XM_011511731.1:c.54367C>G (TTN)	XP_011510033.1:p.Pro18123Ala
XM_017004819.1:c.80410C>G (TTN)	XP_016860308.1:p.Pro26804Ala
XM_017004820.1:c.75808C>G (TTN)	XP_016860309.1:p.Pro25270Ala
XM_017004821.1:c.75805C>G (TTN)	XP_016860310.1:p.Pro25269Ala
XM_017004822.1:c.72847C>G (TTN)	XP_016860311.1:p.Pro24283Ala
XM_017004823.1:c.54463C>G (TTN)	XP_016860312.1:p.Pro18155Ala
XM_024453094.1:c.75958C>G (TTN)	XP_024308862.1:p.Pro25320Ala
XM_024453095.1:c.75955C>G (TTN)	XP_024308863.1:p.Pro25319Ala
XM_024453096.1:c.75388C>G (TTN)	XP_024308864.1:p.Pro25130Ala
XM_024453097.1:c.72730C>G (TTN)	XP_024308865.1:p.Pro24244Ala
XM_024453098.1:c.72649C>G (TTN)	XP_024308866.1:p.Pro24217Ala
XM_024453099.1:c.54412C>G (TTN)	XP_024308867.1:p.Pro18138Ala
XM_024453100.1:c.44266C>G (TTN)	XP_024308868.1:p.Pro14756Ala