Canonical Allele Identifier: CA349597053

Gene: TTN

Linked Data

• ClinVar Variation Id: 597394
• ClinVar RCV Id: RCV000733498
• dbSNP Id: rs1560852223
• MyVariant Identifiers: chr2:g.179600402T>G (hg19) ; chr2:g.178735675T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178735675T>G , CM000664.2:g.178735675T>G	GRCh38
NC_000002.11:g.179600402T>G , CM000664.1:g.179600402T>G	GRCh37
NC_000002.10:g.179308647T>G	NCBI36
NG_011618.3:g.100128A>C , LRG_391:g.100128A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.11039A>C	ENSP00000343764.6:p.Asp3680Ala
ENST00000342175.11:c.13858+2407A>C	ENSP00000340554.6:n.13858+2407A>C
ENST00000359218.10:c.13657+2407A>C	ENSP00000352154.5:n.13657+2407A>C
ENST00000342175.10:c.13858+2407A>C	ENSP00000340554.6:n.13858+2407A>C
ENST00000342992.10:c.11039A>C	ENSP00000343764.6:p.Asp3680Ala
ENST00000359218.9:c.13657+2407A>C	ENSP00000352154.5:n.13657+2407A>C
ENST00000460472.6:c.13282+2407A>C	ENSP00000434586.1:n.13282+2407A>C
ENST00000589042.5:c.14771A>C MANE Select	ENSP00000467141.1:p.Asp4924Ala
ENST00000591111.5:c.13820A>C	ENSP00000465570.1:p.Asp4607Ala
ENST00000615779.4:c.13820A>C	ENSP00000483597.1:p.Asp4607Ala
NM_001256850.1:c.13820A>C	NP_001243779.1:p.Asp4607Ala
NM_001267550.2:c.14771A>C MANE Select	NP_001254479.2:p.Asp4924Ala
NM_003319.4:c.13282+2407A>C	NP_003310.4:n.13282+2407A>C
NM_133378.4:c.11039A>C	NP_596869.4:p.Asp3680Ala
NM_133432.3:c.13657+2407A>C	NP_597676.3:n.13657+2407A>C
NM_133437.4:c.13858+2407A>C	NP_597681.4:n.13858+2407A>C
XM_011511729.1:c.13868A>C	XP_011510031.1:p.Asp4623Ala
XM_011511730.1:c.13468+2407A>C	XP_011510032.1:n.13468+2407A>C
XM_011511731.1:c.13327+2407A>C	XP_011510033.1:n.13327+2407A>C
XM_017004819.1:c.13823A>C	XP_016860308.1:p.Asp4608Ala
XM_017004820.1:c.11042A>C	XP_016860309.1:p.Asp3681Ala
XM_017004821.1:c.11039A>C	XP_016860310.1:p.Asp3680Ala
XM_017004822.1:c.13823A>C	XP_016860311.1:p.Asp4608Ala
XM_017004823.1:c.13423+2407A>C	XP_016860312.1:n.13423+2407A>C
XM_024453094.1:c.13823A>C	XP_024308862.1:p.Asp4608Ala
XM_024453095.1:c.13823A>C	XP_024308863.1:p.Asp4608Ala
XM_024453096.1:c.13823A>C	XP_024308864.1:p.Asp4608Ala
XM_024453097.1:c.13823A>C	XP_024308865.1:p.Asp4608Ala
XM_024453098.1:c.13823A>C	XP_024308866.1:p.Asp4608Ala
XM_024453099.1:c.13423+2407A>C	XP_024308867.1:n.13423+2407A>C