Canonical Allele Identifier: CA141998

Gene: TTN

Linked Data

• ClinVar Variation Id: 47829
• ClinVar RCV Id: RCV000041098 ; RCV000251992 ; RCV000467519
• dbSNP Id: rs199652066
• ExAC: 2:179605227 T / G
• gnomAD v2: 2-179605227-T-G
• gnomAD v3: 2-178740500-T-G
• gnomAD v4: 2-178740500-T-G
• MyVariant Identifiers: chr2:g.179605227T>G (hg19) ; chr2:g.178740500T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178740500T>G , CM000664.2:g.178740500T>G	GRCh38
NC_000002.11:g.179605227T>G , CM000664.1:g.179605227T>G	GRCh37
NC_000002.10:g.179313472T>G	NCBI36
NG_011618.3:g.95303A>C , LRG_391:g.95303A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.10361-2140A>C	ENSP00000343764.6:n.10361-2140A>C
ENST00000342175.11:c.12220A>C	ENSP00000340554.6:p.Asn4074His
ENST00000359218.10:c.12019A>C	ENSP00000352154.5:p.Asn4007His
ENST00000342175.10:c.12220A>C	ENSP00000340554.6:p.Asn4074His
ENST00000342992.10:c.10361-2140A>C	ENSP00000343764.6:n.10361-2140A>C
ENST00000359218.9:c.12019A>C	ENSP00000352154.5:p.Asn4007His
ENST00000460472.6:c.11644A>C	ENSP00000434586.1:p.Asn3882His
ENST00000589042.5:c.12733A>C MANE Select	ENSP00000467141.1:p.Asn4245His
ENST00000591111.5:c.11782A>C	ENSP00000465570.1:p.Asn3928His
ENST00000615779.4:c.11782A>C	ENSP00000483597.1:p.Asn3928His
NM_001256850.1:c.11782A>C	NP_001243779.1:p.Asn3928His
NM_001267550.2:c.12733A>C MANE Select	NP_001254479.2:p.Asn4245His
NM_003319.4:c.11644A>C	NP_003310.4:p.Asn3882His
NM_133378.4:c.10361-2140A>C	NP_596869.4:n.10361-2140A>C
NM_133432.3:c.12019A>C	NP_597676.3:p.Asn4007His
NM_133437.4:c.12220A>C	NP_597681.4:p.Asn4074His
XM_011511729.1:c.11830A>C	XP_011510031.1:p.Asn3944His
XM_011511730.1:c.11830A>C	XP_011510032.1:p.Asn3944His
XM_011511731.1:c.11689A>C	XP_011510033.1:p.Asn3897His
XM_017004819.1:c.11785A>C	XP_016860308.1:p.Asn3929His
XM_017004820.1:c.10364-2140A>C	XP_016860309.1:n.10364-2140A>C
XM_017004821.1:c.10361-2140A>C	XP_016860310.1:n.10361-2140A>C
XM_017004822.1:c.11785A>C	XP_016860311.1:p.Asn3929His
XM_017004823.1:c.11785A>C	XP_016860312.1:p.Asn3929His
XM_024453094.1:c.11785A>C	XP_024308862.1:p.Asn3929His
XM_024453095.1:c.11785A>C	XP_024308863.1:p.Asn3929His
XM_024453096.1:c.11785A>C	XP_024308864.1:p.Asn3929His
XM_024453097.1:c.11785A>C	XP_024308865.1:p.Asn3929His
XM_024453098.1:c.11785A>C	XP_024308866.1:p.Asn3929His
XM_024453099.1:c.11785A>C	XP_024308867.1:p.Asn3929His