Canonical Allele Identifier: CA60970600

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1137606
• ClinVar RCV Id: RCV001473624 ; RCV001572816 ; RCV001700754
• dbSNP Id: rs373041862
• gnomAD v2: 2-179409079-C-T
• gnomAD v3: 2-178544352-C-T
• gnomAD v4: 2-178544352-C-T
• MyVariant Identifiers: chr2:g.179409079C>T (hg19) ; chr2:g.178544352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544352C>T , CM000664.2:g.178544352C>T	GRCh38
NC_000002.11:g.179409079C>T , CM000664.1:g.179409079C>T	GRCh37
NC_000002.10:g.179117325C>T	NCBI36
NG_011618.3:g.291451G>A , LRG_391:g.291451G>A
NG_051363.1:g.26526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88173G>A (TTN)	ENSP00000343764.6:p.Val29391=
ENST00000342175.11:c.69258G>A (TTN)	ENSP00000340554.6:p.Val23086=
ENST00000359218.10:c.69057G>A (TTN)	ENSP00000352154.5:p.Val23019=
ENST00000342175.10:c.69258G>A (TTN)	ENSP00000340554.6:p.Val23086=
ENST00000342992.10:c.88173G>A (TTN)	ENSP00000343764.6:p.Val29391=
ENST00000359218.9:c.69057G>A (TTN)	ENSP00000352154.5:p.Val23019=
ENST00000460472.6:c.68682G>A (TTN)	ENSP00000434586.1:p.Val22894=
ENST00000589042.5:c.95877G>A (TTN) MANE Select	ENSP00000467141.1:p.Val31959=
ENST00000591111.5:c.90954G>A (TTN)	ENSP00000465570.1:p.Val30318=
ENST00000615779.4:c.90954G>A (TTN)	ENSP00000483597.1:p.Val30318=
NM_001256850.1:c.90954G>A (TTN)	NP_001243779.1:p.Val30318=
NM_001267550.2:c.95877G>A (TTN) MANE Select	NP_001254479.2:p.Val31959=
NM_003319.4:c.68682G>A (TTN)	NP_003310.4:p.Val22894=
NM_133378.4:c.88173G>A (TTN)	NP_596869.4:p.Val29391=
NM_133432.3:c.69057G>A (TTN)	NP_597676.3:p.Val23019=
NM_133437.4:c.69258G>A (TTN)	NP_597681.4:p.Val23086=
NR_038271.1:n.446+20716C>T (TTN-AS1)
NR_038272.1:n.2043+1991C>T (TTN-AS1)
XM_011511729.1:c.94974G>A (TTN)	XP_011510031.1:p.Val31658=
XM_011511730.1:c.68868G>A (TTN)	XP_011510032.1:p.Val22956=
XM_011511731.1:c.68727G>A (TTN)	XP_011510033.1:p.Val22909=
XM_017004819.1:c.94770G>A (TTN)	XP_016860308.1:p.Val31590=
XM_017004820.1:c.90168G>A (TTN)	XP_016860309.1:p.Val30056=
XM_017004821.1:c.90165G>A (TTN)	XP_016860310.1:p.Val30055=
XM_017004822.1:c.87207G>A (TTN)	XP_016860311.1:p.Val29069=
XM_017004823.1:c.68823G>A (TTN)	XP_016860312.1:p.Val22941=
XM_024453094.1:c.90318G>A (TTN)	XP_024308862.1:p.Val30106=
XM_024453095.1:c.90315G>A (TTN)	XP_024308863.1:p.Val30105=
XM_024453096.1:c.89748G>A (TTN)	XP_024308864.1:p.Val29916=
XM_024453097.1:c.87090G>A (TTN)	XP_024308865.1:p.Val29030=
XM_024453098.1:c.87009G>A (TTN)	XP_024308866.1:p.Val29003=
XM_024453099.1:c.68772G>A (TTN)	XP_024308867.1:p.Val22924=
XM_024453100.1:c.58626G>A (TTN)	XP_024308868.1:p.Val19542=