Canonical Allele Identifier: CA430235441

Linked Data

MyVariant Identifiers: chr2:g.179395304G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530577G>A , CM000664.2:g.178530577G>A GRCh38
NC_000002.11:g.179395304G>A , CM000664.1:g.179395304G>A GRCh37
NC_000002.10:g.179103550G>A NCBI36
NG_011618.3:g.305226C>T , LRG_391:g.305226C>T
NG_051363.1:g.12751G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98334C>T (TTN) ENSP00000343764.6:p.Ile32778=
ENST00000342175.11:c.79419C>T (TTN) ENSP00000340554.6:p.Ile26473=
ENST00000359218.10:c.79218C>T (TTN) ENSP00000352154.5:p.Ile26406=
ENST00000342175.10:c.79419C>T (TTN) ENSP00000340554.6:p.Ile26473=
ENST00000342992.10:c.98334C>T (TTN) ENSP00000343764.6:p.Ile32778=
ENST00000359218.9:c.79218C>T (TTN) ENSP00000352154.5:p.Ile26406=
ENST00000460472.6:c.78843C>T (TTN) ENSP00000434586.1:p.Ile26281=
ENST00000589042.5:c.106038C>T (TTN) MANE Select ENSP00000467141.1:p.Ile35346=
ENST00000591111.5:c.101115C>T (TTN) ENSP00000465570.1:p.Ile33705=
ENST00000615779.4:c.101115C>T (TTN) ENSP00000483597.1:p.Ile33705=
NM_001256850.1:c.101115C>T (TTN) NP_001243779.1:p.Ile33705=
NM_001267550.2:c.106038C>T (TTN) MANE Select NP_001254479.2:p.Ile35346=
NM_003319.4:c.78843C>T (TTN) NP_003310.4:p.Ile26281=
NM_133378.4:c.98334C>T (TTN) NP_596869.4:p.Ile32778=
NM_133432.3:c.79218C>T (TTN) NP_597676.3:p.Ile26406=
NM_133437.4:c.79419C>T (TTN) NP_597681.4:p.Ile26473=
NR_038271.1:n.446+6941G>A (TTN-AS1)
NR_038272.1:n.220-5155G>A (TTN-AS1)
XM_011511729.1:c.105135C>T (TTN) XP_011510031.1:p.Ile35045=
XM_011511730.1:c.79029C>T (TTN) XP_011510032.1:p.Ile26343=
XM_011511731.1:c.78888C>T (TTN) XP_011510033.1:p.Ile26296=
XM_017004819.1:c.104931C>T (TTN) XP_016860308.1:p.Ile34977=
XM_017004820.1:c.100329C>T (TTN) XP_016860309.1:p.Ile33443=
XM_017004821.1:c.100326C>T (TTN) XP_016860310.1:p.Ile33442=
XM_017004822.1:c.97368C>T (TTN) XP_016860311.1:p.Ile32456=
XM_017004823.1:c.78984C>T (TTN) XP_016860312.1:p.Ile26328=
XM_024453094.1:c.100479C>T (TTN) XP_024308862.1:p.Ile33493=
XM_024453095.1:c.100476C>T (TTN) XP_024308863.1:p.Ile33492=
XM_024453096.1:c.99909C>T (TTN) XP_024308864.1:p.Ile33303=
XM_024453097.1:c.97251C>T (TTN) XP_024308865.1:p.Ile32417=
XM_024453098.1:c.97170C>T (TTN) XP_024308866.1:p.Ile32390=
XM_024453099.1:c.78933C>T (TTN) XP_024308867.1:p.Ile26311=
XM_024453100.1:c.68787C>T (TTN) XP_024308868.1:p.Ile22929=