Canonical Allele Identifier: CA430256864

Linked Data

MyVariant Identifiers: chr2:g.179438694G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573967G>C , CM000664.2:g.178573967G>C GRCh38
NC_000002.11:g.179438694G>C , CM000664.1:g.179438694G>C GRCh37
NC_000002.10:g.179146940G>C NCBI36
NG_011618.3:g.261836C>G , LRG_391:g.261836C>G
NG_051363.1:g.56141G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64461C>G (TTN) ENSP00000343764.6:p.Gly21487=
ENST00000342175.11:c.45546C>G (TTN) ENSP00000340554.6:p.Gly15182=
ENST00000359218.10:c.45345C>G (TTN) ENSP00000352154.5:p.Gly15115=
ENST00000342175.10:c.45546C>G (TTN) ENSP00000340554.6:p.Gly15182=
ENST00000342992.10:c.64461C>G (TTN) ENSP00000343764.6:p.Gly21487=
ENST00000359218.9:c.45345C>G (TTN) ENSP00000352154.5:p.Gly15115=
ENST00000460472.6:c.44970C>G (TTN) ENSP00000434586.1:p.Gly14990=
ENST00000589042.5:c.72165C>G (TTN) MANE Select ENSP00000467141.1:p.Gly24055=
ENST00000591111.5:c.67242C>G (TTN) ENSP00000465570.1:p.Gly22414=
ENST00000615779.4:c.67242C>G (TTN) ENSP00000483597.1:p.Gly22414=
NM_001256850.1:c.67242C>G (TTN) NP_001243779.1:p.Gly22414=
NM_001267550.2:c.72165C>G (TTN) MANE Select NP_001254479.2:p.Gly24055=
NM_003319.4:c.44970C>G (TTN) NP_003310.4:p.Gly14990=
NM_133378.4:c.64461C>G (TTN) NP_596869.4:p.Gly21487=
NM_133432.3:c.45345C>G (TTN) NP_597676.3:p.Gly15115=
NM_133437.4:c.45546C>G (TTN) NP_597681.4:p.Gly15182=
NR_038271.1:n.596+2518G>C (TTN-AS1)
NR_038272.1:n.2044-8605G>C (TTN-AS1)
XM_011511729.1:c.71262C>G (TTN) XP_011510031.1:p.Gly23754=
XM_011511730.1:c.45156C>G (TTN) XP_011510032.1:p.Gly15052=
XM_011511731.1:c.45015C>G (TTN) XP_011510033.1:p.Gly15005=
XM_017004819.1:c.71058C>G (TTN) XP_016860308.1:p.Gly23686=
XM_017004820.1:c.66456C>G (TTN) XP_016860309.1:p.Gly22152=
XM_017004821.1:c.66453C>G (TTN) XP_016860310.1:p.Gly22151=
XM_017004822.1:c.63495C>G (TTN) XP_016860311.1:p.Gly21165=
XM_017004823.1:c.45111C>G (TTN) XP_016860312.1:p.Gly15037=
XM_024453094.1:c.66606C>G (TTN) XP_024308862.1:p.Gly22202=
XM_024453095.1:c.66603C>G (TTN) XP_024308863.1:p.Gly22201=
XM_024453096.1:c.66036C>G (TTN) XP_024308864.1:p.Gly22012=
XM_024453097.1:c.63378C>G (TTN) XP_024308865.1:p.Gly21126=
XM_024453098.1:c.63297C>G (TTN) XP_024308866.1:p.Gly21099=
XM_024453099.1:c.45060C>G (TTN) XP_024308867.1:p.Gly15020=
XM_024453100.1:c.34914C>G (TTN) XP_024308868.1:p.Gly11638=