Canonical Allele Identifier: CA349618178

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482781G>C (hg19) ; chr2:g.178618054G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618054G>C , CM000664.2:g.178618054G>C	GRCh38
NC_000002.11:g.179482781G>C , CM000664.1:g.179482781G>C	GRCh37
NC_000002.10:g.179191026G>C	NCBI36
NG_011618.3:g.217749C>G , LRG_391:g.217749C>G
NG_051363.1:g.100228G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39593C>G (TTN)	ENSP00000343764.6:p.Thr13198Ser
ENST00000342175.11:c.20678C>G (TTN)	ENSP00000340554.6:p.Thr6893Ser
ENST00000359218.10:c.20477C>G (TTN)	ENSP00000352154.5:p.Thr6826Ser
ENST00000342175.10:c.20678C>G (TTN)	ENSP00000340554.6:p.Thr6893Ser
ENST00000342992.10:c.39593C>G (TTN)	ENSP00000343764.6:p.Thr13198Ser
ENST00000359218.9:c.20477C>G (TTN)	ENSP00000352154.5:p.Thr6826Ser
ENST00000460472.6:c.20102C>G (TTN)	ENSP00000434586.1:p.Thr6701Ser
ENST00000589042.5:c.47297C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr15766Ser
ENST00000591111.5:c.42374C>G (TTN)	ENSP00000465570.1:p.Thr14125Ser
ENST00000615779.4:c.42374C>G (TTN)	ENSP00000483597.1:p.Thr14125Ser
NM_001256850.1:c.42374C>G (TTN)	NP_001243779.1:p.Thr14125Ser
NM_001267550.2:c.47297C>G (TTN) MANE Select	NP_001254479.2:p.Thr15766Ser
NM_003319.4:c.20102C>G (TTN)	NP_003310.4:p.Thr6701Ser
NM_133378.4:c.39593C>G (TTN)	NP_596869.4:p.Thr13198Ser
NM_133432.3:c.20477C>G (TTN)	NP_597676.3:p.Thr6826Ser
NM_133437.4:c.20678C>G (TTN)	NP_597681.4:p.Thr6893Ser
NR_038271.1:n.1605-1699G>C (TTN-AS1)
XM_011511729.1:c.46394C>G (TTN)	XP_011510031.1:p.Thr15465Ser
XM_011511730.1:c.20288C>G (TTN)	XP_011510032.1:p.Thr6763Ser
XM_011511731.1:c.20147C>G (TTN)	XP_011510033.1:p.Thr6716Ser
XM_017004819.1:c.46190C>G (TTN)	XP_016860308.1:p.Thr15397Ser
XM_017004820.1:c.41588C>G (TTN)	XP_016860309.1:p.Thr13863Ser
XM_017004821.1:c.41585C>G (TTN)	XP_016860310.1:p.Thr13862Ser
XM_017004822.1:c.38627C>G (TTN)	XP_016860311.1:p.Thr12876Ser
XM_017004823.1:c.20243C>G (TTN)	XP_016860312.1:p.Thr6748Ser
XM_024453094.1:c.41738C>G (TTN)	XP_024308862.1:p.Thr13913Ser
XM_024453095.1:c.41735C>G (TTN)	XP_024308863.1:p.Thr13912Ser
XM_024453096.1:c.41168C>G (TTN)	XP_024308864.1:p.Thr13723Ser
XM_024453097.1:c.38510C>G (TTN)	XP_024308865.1:p.Thr12837Ser
XM_024453098.1:c.38429C>G (TTN)	XP_024308866.1:p.Thr12810Ser
XM_024453099.1:c.20192C>G (TTN)	XP_024308867.1:p.Thr6731Ser
XM_024453100.1:c.10046C>G (TTN)	XP_024308868.1:p.Thr3349Ser