Canonical Allele Identifier: CA349435472

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2048495969
• gnomAD v4: 2-178584483-G-A
• MyVariant Identifiers: chr2:g.179449210G>A (hg19) ; chr2:g.178584483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584483G>A , CM000664.2:g.178584483G>A	GRCh38
NC_000002.11:g.179449210G>A , CM000664.1:g.179449210G>A	GRCh37
NC_000002.10:g.179157456G>A	NCBI36
NG_011618.3:g.251320C>T , LRG_391:g.251320C>T
NG_051363.1:g.66657G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57364C>T (TTN)	ENSP00000343764.6:p.Pro19122Ser
ENST00000342175.11:c.38449C>T (TTN)	ENSP00000340554.6:p.Pro12817Ser
ENST00000359218.10:c.38248C>T (TTN)	ENSP00000352154.5:p.Pro12750Ser
ENST00000342175.10:c.38449C>T (TTN)	ENSP00000340554.6:p.Pro12817Ser
ENST00000342992.10:c.57364C>T (TTN)	ENSP00000343764.6:p.Pro19122Ser
ENST00000359218.9:c.38248C>T (TTN)	ENSP00000352154.5:p.Pro12750Ser
ENST00000460472.6:c.37873C>T (TTN)	ENSP00000434586.1:p.Pro12625Ser
ENST00000589042.5:c.65068C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro21690Ser
ENST00000591111.5:c.60145C>T (TTN)	ENSP00000465570.1:p.Pro20049Ser
ENST00000615779.4:c.60145C>T (TTN)	ENSP00000483597.1:p.Pro20049Ser
NM_001256850.1:c.60145C>T (TTN)	NP_001243779.1:p.Pro20049Ser
NM_001267550.2:c.65068C>T (TTN) MANE Select	NP_001254479.2:p.Pro21690Ser
NM_003319.4:c.37873C>T (TTN)	NP_003310.4:p.Pro12625Ser
NM_133378.4:c.57364C>T (TTN)	NP_596869.4:p.Pro19122Ser
NM_133432.3:c.38248C>T (TTN)	NP_597676.3:p.Pro12750Ser
NM_133437.4:c.38449C>T (TTN)	NP_597681.4:p.Pro12817Ser
NR_038271.1:n.596+13034G>A (TTN-AS1)
NR_038272.1:n.2768-90G>A (TTN-AS1)
XM_011511729.1:c.64165C>T (TTN)	XP_011510031.1:p.Pro21389Ser
XM_011511730.1:c.38059C>T (TTN)	XP_011510032.1:p.Pro12687Ser
XM_011511731.1:c.37918C>T (TTN)	XP_011510033.1:p.Pro12640Ser
XM_017004819.1:c.63961C>T (TTN)	XP_016860308.1:p.Pro21321Ser
XM_017004820.1:c.59359C>T (TTN)	XP_016860309.1:p.Pro19787Ser
XM_017004821.1:c.59356C>T (TTN)	XP_016860310.1:p.Pro19786Ser
XM_017004822.1:c.56398C>T (TTN)	XP_016860311.1:p.Pro18800Ser
XM_017004823.1:c.38014C>T (TTN)	XP_016860312.1:p.Pro12672Ser
XM_024453094.1:c.59509C>T (TTN)	XP_024308862.1:p.Pro19837Ser
XM_024453095.1:c.59506C>T (TTN)	XP_024308863.1:p.Pro19836Ser
XM_024453096.1:c.58939C>T (TTN)	XP_024308864.1:p.Pro19647Ser
XM_024453097.1:c.56281C>T (TTN)	XP_024308865.1:p.Pro18761Ser
XM_024453098.1:c.56200C>T (TTN)	XP_024308866.1:p.Pro18734Ser
XM_024453099.1:c.37963C>T (TTN)	XP_024308867.1:p.Pro12655Ser
XM_024453100.1:c.27817C>T (TTN)	XP_024308868.1:p.Pro9273Ser