Canonical Allele Identifier: CA349628947

Gene: TTN

Linked Data

• dbSNP Id: rs1157527811
• gnomAD v3: 2-178620343-A-G
• gnomAD v4: 2-178620343-A-G
• MyVariant Identifiers: chr2:g.179485070A>G (hg19) ; chr2:g.178620343A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178620343A>G , CM000664.2:g.178620343A>G	GRCh38
NC_000002.11:g.179485070A>G , CM000664.1:g.179485070A>G	GRCh37
NC_000002.10:g.179193315A>G	NCBI36
NG_011618.3:g.215460T>C , LRG_391:g.215460T>C
NG_051363.1:g.102517A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.38474T>C	ENSP00000343764.6:p.Phe12825Ser
ENST00000342175.11:c.19559T>C	ENSP00000340554.6:p.Phe6520Ser
ENST00000359218.10:c.19358T>C	ENSP00000352154.5:p.Phe6453Ser
ENST00000342175.10:c.19559T>C	ENSP00000340554.6:p.Phe6520Ser
ENST00000342992.10:c.38474T>C	ENSP00000343764.6:p.Phe12825Ser
ENST00000359218.9:c.19358T>C	ENSP00000352154.5:p.Phe6453Ser
ENST00000460472.6:c.18983T>C	ENSP00000434586.1:p.Phe6328Ser
ENST00000589042.5:c.46178T>C MANE Select	ENSP00000467141.1:p.Phe15393Ser
ENST00000591111.5:c.41255T>C	ENSP00000465570.1:p.Phe13752Ser
ENST00000615779.4:c.41255T>C	ENSP00000483597.1:p.Phe13752Ser
NM_001256850.1:c.41255T>C	NP_001243779.1:p.Phe13752Ser
NM_001267550.2:c.46178T>C MANE Select	NP_001254479.2:p.Phe15393Ser
NM_003319.4:c.18983T>C	NP_003310.4:p.Phe6328Ser
NM_133378.4:c.38474T>C	NP_596869.4:p.Phe12825Ser
NM_133432.3:c.19358T>C	NP_597676.3:p.Phe6453Ser
NM_133437.4:c.19559T>C	NP_597681.4:p.Phe6520Ser
XM_011511729.1:c.45275T>C	XP_011510031.1:p.Phe15092Ser
XM_011511730.1:c.19169T>C	XP_011510032.1:p.Phe6390Ser
XM_011511731.1:c.19028T>C	XP_011510033.1:p.Phe6343Ser
XM_017004819.1:c.45071T>C	XP_016860308.1:p.Phe15024Ser
XM_017004820.1:c.40469T>C	XP_016860309.1:p.Phe13490Ser
XM_017004821.1:c.40466T>C	XP_016860310.1:p.Phe13489Ser
XM_017004822.1:c.37508T>C	XP_016860311.1:p.Phe12503Ser
XM_017004823.1:c.19124T>C	XP_016860312.1:p.Phe6375Ser
XM_024453094.1:c.40619T>C	XP_024308862.1:p.Phe13540Ser
XM_024453095.1:c.40616T>C	XP_024308863.1:p.Phe13539Ser
XM_024453096.1:c.40049T>C	XP_024308864.1:p.Phe13350Ser
XM_024453097.1:c.37391T>C	XP_024308865.1:p.Phe12464Ser
XM_024453098.1:c.37310T>C	XP_024308866.1:p.Phe12437Ser
XM_024453099.1:c.19073T>C	XP_024308867.1:p.Phe6358Ser
XM_024453100.1:c.8927T>C	XP_024308868.1:p.Phe2976Ser