Canonical Allele Identifier: CA349400228

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1058369
• ClinVar RCV Id: RCV001367501
• dbSNP Id: rs2154130270
• MyVariant Identifiers: chr2:g.179392343C>T (hg19) ; chr2:g.178527616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527616C>T , CM000664.2:g.178527616C>T	GRCh38
NC_000002.11:g.179392343C>T , CM000664.1:g.179392343C>T	GRCh37
NC_000002.10:g.179100589C>T	NCBI36
NG_011618.3:g.308187G>A , LRG_391:g.308187G>A
NG_051363.1:g.9790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.99806G>A (TTN)	ENSP00000343764.6:p.Ser33269Asn
ENST00000342175.11:c.80891G>A (TTN)	ENSP00000340554.6:p.Ser26964Asn
ENST00000359218.10:c.80690G>A (TTN)	ENSP00000352154.5:p.Ser26897Asn
ENST00000342175.10:c.80891G>A (TTN)	ENSP00000340554.6:p.Ser26964Asn
ENST00000342992.10:c.99806G>A (TTN)	ENSP00000343764.6:p.Ser33269Asn
ENST00000359218.9:c.80690G>A (TTN)	ENSP00000352154.5:p.Ser26897Asn
ENST00000460472.6:c.80315G>A (TTN)	ENSP00000434586.1:p.Ser26772Asn
ENST00000589042.5:c.107510G>A (TTN) MANE Select	ENSP00000467141.1:p.Ser35837Asn
ENST00000591111.5:c.102587G>A (TTN)	ENSP00000465570.1:p.Ser34196Asn
ENST00000615779.4:c.102587G>A (TTN)	ENSP00000483597.1:p.Ser34196Asn
NM_001256850.1:c.102587G>A (TTN)	NP_001243779.1:p.Ser34196Asn
NM_001267550.2:c.107510G>A (TTN) MANE Select	NP_001254479.2:p.Ser35837Asn
NM_003319.4:c.80315G>A (TTN)	NP_003310.4:p.Ser26772Asn
NM_133378.4:c.99806G>A (TTN)	NP_596869.4:p.Ser33269Asn
NM_133432.3:c.80690G>A (TTN)	NP_597676.3:p.Ser26897Asn
NM_133437.4:c.80891G>A (TTN)	NP_597681.4:p.Ser26964Asn
NR_038271.1:n.446+3980C>T (TTN-AS1)
NR_038272.1:n.219+3980C>T (TTN-AS1)
XM_011511729.1:c.106607G>A (TTN)	XP_011510031.1:p.Ser35536Asn
XM_011511730.1:c.80501G>A (TTN)	XP_011510032.1:p.Ser26834Asn
XM_011511731.1:c.80360G>A (TTN)	XP_011510033.1:p.Ser26787Asn
XM_017004819.1:c.106403G>A (TTN)	XP_016860308.1:p.Ser35468Asn
XM_017004820.1:c.101801G>A (TTN)	XP_016860309.1:p.Ser33934Asn
XM_017004821.1:c.101798G>A (TTN)	XP_016860310.1:p.Ser33933Asn
XM_017004822.1:c.98840G>A (TTN)	XP_016860311.1:p.Ser32947Asn
XM_017004823.1:c.80456G>A (TTN)	XP_016860312.1:p.Ser26819Asn
XM_024453094.1:c.101951G>A (TTN)	XP_024308862.1:p.Ser33984Asn
XM_024453095.1:c.101948G>A (TTN)	XP_024308863.1:p.Ser33983Asn
XM_024453096.1:c.101381G>A (TTN)	XP_024308864.1:p.Ser33794Asn
XM_024453097.1:c.98723G>A (TTN)	XP_024308865.1:p.Ser32908Asn
XM_024453098.1:c.98642G>A (TTN)	XP_024308866.1:p.Ser32881Asn
XM_024453099.1:c.80405G>A (TTN)	XP_024308867.1:p.Ser26802Asn
XM_024453100.1:c.70259G>A (TTN)	XP_024308868.1:p.Ser23420Asn