Canonical Allele Identifier: CA349661941

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179501491C>G (hg19) ; chr2:g.178636764C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636764C>G , CM000664.2:g.178636764C>G	GRCh38
NC_000002.11:g.179501491C>G , CM000664.1:g.179501491C>G	GRCh37
NC_000002.10:g.179209736C>G	NCBI36
NG_011618.3:g.199039G>C , LRG_391:g.199039G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33259G>C	ENSP00000343764.6:p.Glu11087Gln
ENST00000342175.11:c.14344G>C	ENSP00000340554.6:p.Glu4782Gln
ENST00000359218.10:c.14143G>C	ENSP00000352154.5:p.Glu4715Gln
ENST00000342175.10:c.14344G>C	ENSP00000340554.6:p.Glu4782Gln
ENST00000342992.10:c.33259G>C	ENSP00000343764.6:p.Glu11087Gln
ENST00000359218.9:c.14143G>C	ENSP00000352154.5:p.Glu4715Gln
ENST00000414766.5:c.2875G>C	ENSP00000401501.1:p.Glu959Gln
ENST00000460472.6:c.13768G>C	ENSP00000434586.1:p.Glu4590Gln
ENST00000589042.5:c.40963G>C MANE Select	ENSP00000467141.1:p.Glu13655Gln
ENST00000591111.5:c.36040G>C	ENSP00000465570.1:p.Glu12014Gln
ENST00000615779.4:c.36040G>C	ENSP00000483597.1:p.Glu12014Gln
NM_001256850.1:c.36040G>C	NP_001243779.1:p.Glu12014Gln
NM_001267550.2:c.40963G>C MANE Select	NP_001254479.2:p.Glu13655Gln
NM_003319.4:c.13768G>C	NP_003310.4:p.Glu4590Gln
NM_133378.4:c.33259G>C	NP_596869.4:p.Glu11087Gln
NM_133432.3:c.14143G>C	NP_597676.3:p.Glu4715Gln
NM_133437.4:c.14344G>C	NP_597681.4:p.Glu4782Gln
XM_011511729.1:c.40060G>C	XP_011510031.1:p.Glu13354Gln
XM_011511730.1:c.13954G>C	XP_011510032.1:p.Glu4652Gln
XM_011511731.1:c.13813G>C	XP_011510033.1:p.Glu4605Gln
XM_017004819.1:c.39856G>C	XP_016860308.1:p.Glu13286Gln
XM_017004820.1:c.35254G>C	XP_016860309.1:p.Glu11752Gln
XM_017004821.1:c.35251G>C	XP_016860310.1:p.Glu11751Gln
XM_017004822.1:c.32293G>C	XP_016860311.1:p.Glu10765Gln
XM_017004823.1:c.13909G>C	XP_016860312.1:p.Glu4637Gln
XM_024453094.1:c.35404G>C	XP_024308862.1:p.Glu11802Gln
XM_024453095.1:c.35401G>C	XP_024308863.1:p.Glu11801Gln
XM_024453096.1:c.34834G>C	XP_024308864.1:p.Glu11612Gln
XM_024453097.1:c.32176G>C	XP_024308865.1:p.Glu10726Gln
XM_024453098.1:c.32095G>C	XP_024308866.1:p.Glu10699Gln
XM_024453099.1:c.13858G>C	XP_024308867.1:p.Glu4620Gln
XM_024453100.1:c.3712G>C	XP_024308868.1:p.Glu1238Gln