Canonical Allele Identifier: CA430244836

Linked Data

MyVariant Identifiers: chr2:g.179414535A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549808A>C , CM000664.2:g.178549808A>C GRCh38
NC_000002.11:g.179414535A>C , CM000664.1:g.179414535A>C GRCh37
NC_000002.10:g.179122781A>C NCBI36
NG_011618.3:g.285995T>G , LRG_391:g.285995T>G
NG_051363.1:g.31982A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84210T>G (TTN) ENSP00000343764.6:p.Thr28070=
ENST00000342175.11:c.65295T>G (TTN) ENSP00000340554.6:p.Thr21765=
ENST00000359218.10:c.65094T>G (TTN) ENSP00000352154.5:p.Thr21698=
ENST00000342175.10:c.65295T>G (TTN) ENSP00000340554.6:p.Thr21765=
ENST00000342992.10:c.84210T>G (TTN) ENSP00000343764.6:p.Thr28070=
ENST00000359218.9:c.65094T>G (TTN) ENSP00000352154.5:p.Thr21698=
ENST00000460472.6:c.64719T>G (TTN) ENSP00000434586.1:p.Thr21573=
ENST00000589042.5:c.91914T>G (TTN) MANE Select ENSP00000467141.1:p.Thr30638=
ENST00000591111.5:c.86991T>G (TTN) ENSP00000465570.1:p.Thr28997=
ENST00000615779.4:c.86991T>G (TTN) ENSP00000483597.1:p.Thr28997=
NM_001256850.1:c.86991T>G (TTN) NP_001243779.1:p.Thr28997=
NM_001267550.2:c.91914T>G (TTN) MANE Select NP_001254479.2:p.Thr30638=
NM_003319.4:c.64719T>G (TTN) NP_003310.4:p.Thr21573=
NM_133378.4:c.84210T>G (TTN) NP_596869.4:p.Thr28070=
NM_133432.3:c.65094T>G (TTN) NP_597676.3:p.Thr21698=
NM_133437.4:c.65295T>G (TTN) NP_597681.4:p.Thr21765=
NR_038271.1:n.447-21492A>C (TTN-AS1)
NR_038272.1:n.2043+7447A>C (TTN-AS1)
XM_011511729.1:c.91011T>G (TTN) XP_011510031.1:p.Thr30337=
XM_011511730.1:c.64905T>G (TTN) XP_011510032.1:p.Thr21635=
XM_011511731.1:c.64764T>G (TTN) XP_011510033.1:p.Thr21588=
XM_017004819.1:c.90807T>G (TTN) XP_016860308.1:p.Thr30269=
XM_017004820.1:c.86205T>G (TTN) XP_016860309.1:p.Thr28735=
XM_017004821.1:c.86202T>G (TTN) XP_016860310.1:p.Thr28734=
XM_017004822.1:c.83244T>G (TTN) XP_016860311.1:p.Thr27748=
XM_017004823.1:c.64860T>G (TTN) XP_016860312.1:p.Thr21620=
XM_024453094.1:c.86355T>G (TTN) XP_024308862.1:p.Thr28785=
XM_024453095.1:c.86352T>G (TTN) XP_024308863.1:p.Thr28784=
XM_024453096.1:c.85785T>G (TTN) XP_024308864.1:p.Thr28595=
XM_024453097.1:c.83127T>G (TTN) XP_024308865.1:p.Thr27709=
XM_024453098.1:c.83046T>G (TTN) XP_024308866.1:p.Thr27682=
XM_024453099.1:c.64809T>G (TTN) XP_024308867.1:p.Thr21603=
XM_024453100.1:c.54663T>G (TTN) XP_024308868.1:p.Thr18221=