Canonical Allele Identifier: CA430094143

Linked Data

MyVariant Identifiers: chr2:g.179394841G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530114G>C , CM000664.2:g.178530114G>C GRCh38
NC_000002.11:g.179394841G>C , CM000664.1:g.179394841G>C GRCh37
NC_000002.10:g.179103087G>C NCBI36
NG_011618.3:g.305689C>G , LRG_391:g.305689C>G
NG_051363.1:g.12288G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98673C>G (TTN) ENSP00000343764.6:p.Ala32891=
ENST00000342175.11:c.79758C>G (TTN) ENSP00000340554.6:p.Ala26586=
ENST00000359218.10:c.79557C>G (TTN) ENSP00000352154.5:p.Ala26519=
ENST00000342175.10:c.79758C>G (TTN) ENSP00000340554.6:p.Ala26586=
ENST00000342992.10:c.98673C>G (TTN) ENSP00000343764.6:p.Ala32891=
ENST00000359218.9:c.79557C>G (TTN) ENSP00000352154.5:p.Ala26519=
ENST00000460472.6:c.79182C>G (TTN) ENSP00000434586.1:p.Ala26394=
ENST00000589042.5:c.106377C>G (TTN) MANE Select ENSP00000467141.1:p.Ala35459=
ENST00000591111.5:c.101454C>G (TTN) ENSP00000465570.1:p.Ala33818=
ENST00000615779.4:c.101454C>G (TTN) ENSP00000483597.1:p.Ala33818=
NM_001256850.1:c.101454C>G (TTN) NP_001243779.1:p.Ala33818=
NM_001267550.2:c.106377C>G (TTN) MANE Select NP_001254479.2:p.Ala35459=
NM_003319.4:c.79182C>G (TTN) NP_003310.4:p.Ala26394=
NM_133378.4:c.98673C>G (TTN) NP_596869.4:p.Ala32891=
NM_133432.3:c.79557C>G (TTN) NP_597676.3:p.Ala26519=
NM_133437.4:c.79758C>G (TTN) NP_597681.4:p.Ala26586=
NR_038271.1:n.446+6478G>C (TTN-AS1)
NR_038272.1:n.220-5618G>C (TTN-AS1)
XM_011511729.1:c.105474C>G (TTN) XP_011510031.1:p.Ala35158=
XM_011511730.1:c.79368C>G (TTN) XP_011510032.1:p.Ala26456=
XM_011511731.1:c.79227C>G (TTN) XP_011510033.1:p.Ala26409=
XM_017004819.1:c.105270C>G (TTN) XP_016860308.1:p.Ala35090=
XM_017004820.1:c.100668C>G (TTN) XP_016860309.1:p.Ala33556=
XM_017004821.1:c.100665C>G (TTN) XP_016860310.1:p.Ala33555=
XM_017004822.1:c.97707C>G (TTN) XP_016860311.1:p.Ala32569=
XM_017004823.1:c.79323C>G (TTN) XP_016860312.1:p.Ala26441=
XM_024453094.1:c.100818C>G (TTN) XP_024308862.1:p.Ala33606=
XM_024453095.1:c.100815C>G (TTN) XP_024308863.1:p.Ala33605=
XM_024453096.1:c.100248C>G (TTN) XP_024308864.1:p.Ala33416=
XM_024453097.1:c.97590C>G (TTN) XP_024308865.1:p.Ala32530=
XM_024453098.1:c.97509C>G (TTN) XP_024308866.1:p.Ala32503=
XM_024453099.1:c.79272C>G (TTN) XP_024308867.1:p.Ala26424=
XM_024453100.1:c.69126C>G (TTN) XP_024308868.1:p.Ala23042=