Canonical Allele Identifier: CA60961674

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs770403361
• gnomAD v4: 2-178537604-T-G
• MyVariant Identifiers: chr2:g.179402331T>G (hg19) ; chr2:g.178537604T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537604T>G , CM000664.2:g.178537604T>G	GRCh38
NC_000002.11:g.179402331T>G , CM000664.1:g.179402331T>G	GRCh37
NC_000002.10:g.179110577T>G	NCBI36
NG_011618.3:g.298199A>C , LRG_391:g.298199A>C
NG_051363.1:g.19778T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91899A>C (TTN)	ENSP00000343764.6:p.Pro30633=
ENST00000342175.11:c.72984A>C (TTN)	ENSP00000340554.6:p.Pro24328=
ENST00000359218.10:c.72783A>C (TTN)	ENSP00000352154.5:p.Pro24261=
ENST00000342175.10:c.72984A>C (TTN)	ENSP00000340554.6:p.Pro24328=
ENST00000342992.10:c.91899A>C (TTN)	ENSP00000343764.6:p.Pro30633=
ENST00000359218.9:c.72783A>C (TTN)	ENSP00000352154.5:p.Pro24261=
ENST00000460472.6:c.72408A>C (TTN)	ENSP00000434586.1:p.Pro24136=
ENST00000589042.5:c.99603A>C (TTN) MANE Select	ENSP00000467141.1:p.Pro33201=
ENST00000591111.5:c.94680A>C (TTN)	ENSP00000465570.1:p.Pro31560=
ENST00000615779.4:c.94680A>C (TTN)	ENSP00000483597.1:p.Pro31560=
NM_001256850.1:c.94680A>C (TTN)	NP_001243779.1:p.Pro31560=
NM_001267550.2:c.99603A>C (TTN) MANE Select	NP_001254479.2:p.Pro33201=
NM_003319.4:c.72408A>C (TTN)	NP_003310.4:p.Pro24136=
NM_133378.4:c.91899A>C (TTN)	NP_596869.4:p.Pro30633=
NM_133432.3:c.72783A>C (TTN)	NP_597676.3:p.Pro24261=
NM_133437.4:c.72984A>C (TTN)	NP_597681.4:p.Pro24328=
NR_038271.1:n.446+13968T>G (TTN-AS1)
NR_038272.1:n.560T>G (TTN-AS1)
XM_011511729.1:c.98700A>C (TTN)	XP_011510031.1:p.Pro32900=
XM_011511730.1:c.72594A>C (TTN)	XP_011510032.1:p.Pro24198=
XM_011511731.1:c.72453A>C (TTN)	XP_011510033.1:p.Pro24151=
XM_017004819.1:c.98496A>C (TTN)	XP_016860308.1:p.Pro32832=
XM_017004820.1:c.93894A>C (TTN)	XP_016860309.1:p.Pro31298=
XM_017004821.1:c.93891A>C (TTN)	XP_016860310.1:p.Pro31297=
XM_017004822.1:c.90933A>C (TTN)	XP_016860311.1:p.Pro30311=
XM_017004823.1:c.72549A>C (TTN)	XP_016860312.1:p.Pro24183=
XM_024453094.1:c.94044A>C (TTN)	XP_024308862.1:p.Pro31348=
XM_024453095.1:c.94041A>C (TTN)	XP_024308863.1:p.Pro31347=
XM_024453096.1:c.93474A>C (TTN)	XP_024308864.1:p.Pro31158=
XM_024453097.1:c.90816A>C (TTN)	XP_024308865.1:p.Pro30272=
XM_024453098.1:c.90735A>C (TTN)	XP_024308866.1:p.Pro30245=
XM_024453099.1:c.72498A>C (TTN)	XP_024308867.1:p.Pro24166=
XM_024453100.1:c.62352A>C (TTN)	XP_024308868.1:p.Pro20784=