Canonical Allele Identifier: CA430238640

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1444151323
• gnomAD v2: 2-179400530-T-C
• gnomAD v4: 2-178535803-T-C
• MyVariant Identifiers: chr2:g.179400530T>C (hg19) ; chr2:g.178535803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535803T>C , CM000664.2:g.178535803T>C	GRCh38
NC_000002.11:g.179400530T>C , CM000664.1:g.179400530T>C	GRCh37
NC_000002.10:g.179108776T>C	NCBI36
NG_011618.3:g.300000A>G , LRG_391:g.300000A>G
NG_051363.1:g.17977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.93108A>G (TTN)	ENSP00000343764.6:p.Ala31036=
ENST00000342175.11:c.74193A>G (TTN)	ENSP00000340554.6:p.Ala24731=
ENST00000359218.10:c.73992A>G (TTN)	ENSP00000352154.5:p.Ala24664=
ENST00000342175.10:c.74193A>G (TTN)	ENSP00000340554.6:p.Ala24731=
ENST00000342992.10:c.93108A>G (TTN)	ENSP00000343764.6:p.Ala31036=
ENST00000359218.9:c.73992A>G (TTN)	ENSP00000352154.5:p.Ala24664=
ENST00000460472.6:c.73617A>G (TTN)	ENSP00000434586.1:p.Ala24539=
ENST00000589042.5:c.100812A>G (TTN) MANE Select	ENSP00000467141.1:p.Ala33604=
ENST00000591111.5:c.95889A>G (TTN)	ENSP00000465570.1:p.Ala31963=
ENST00000615779.4:c.95889A>G (TTN)	ENSP00000483597.1:p.Ala31963=
NM_001256850.1:c.95889A>G (TTN)	NP_001243779.1:p.Ala31963=
NM_001267550.2:c.100812A>G (TTN) MANE Select	NP_001254479.2:p.Ala33604=
NM_003319.4:c.73617A>G (TTN)	NP_003310.4:p.Ala24539=
NM_133378.4:c.93108A>G (TTN)	NP_596869.4:p.Ala31036=
NM_133432.3:c.73992A>G (TTN)	NP_597676.3:p.Ala24664=
NM_133437.4:c.74193A>G (TTN)	NP_597681.4:p.Ala24731=
NR_038271.1:n.446+12167T>C (TTN-AS1)
NR_038272.1:n.291T>C (TTN-AS1)
XM_011511729.1:c.99909A>G (TTN)	XP_011510031.1:p.Ala33303=
XM_011511730.1:c.73803A>G (TTN)	XP_011510032.1:p.Ala24601=
XM_011511731.1:c.73662A>G (TTN)	XP_011510033.1:p.Ala24554=
XM_017004819.1:c.99705A>G (TTN)	XP_016860308.1:p.Ala33235=
XM_017004820.1:c.95103A>G (TTN)	XP_016860309.1:p.Ala31701=
XM_017004821.1:c.95100A>G (TTN)	XP_016860310.1:p.Ala31700=
XM_017004822.1:c.92142A>G (TTN)	XP_016860311.1:p.Ala30714=
XM_017004823.1:c.73758A>G (TTN)	XP_016860312.1:p.Ala24586=
XM_024453094.1:c.95253A>G (TTN)	XP_024308862.1:p.Ala31751=
XM_024453095.1:c.95250A>G (TTN)	XP_024308863.1:p.Ala31750=
XM_024453096.1:c.94683A>G (TTN)	XP_024308864.1:p.Ala31561=
XM_024453097.1:c.92025A>G (TTN)	XP_024308865.1:p.Ala30675=
XM_024453098.1:c.91944A>G (TTN)	XP_024308866.1:p.Ala30648=
XM_024453099.1:c.73707A>G (TTN)	XP_024308867.1:p.Ala24569=
XM_024453100.1:c.63561A>G (TTN)	XP_024308868.1:p.Ala21187=