Canonical Allele Identifier: CA349545212

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179467062C>A (hg19) ; chr2:g.178602335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602335C>A , CM000664.2:g.178602335C>A	GRCh38
NC_000002.11:g.179467062C>A , CM000664.1:g.179467062C>A	GRCh37
NC_000002.10:g.179175307C>A	NCBI36
NG_011618.3:g.233468G>T , LRG_391:g.233468G>T
NG_051363.1:g.84509C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47363G>T (TTN)	ENSP00000343764.6:p.Gly15788Val
ENST00000342175.11:c.28448G>T (TTN)	ENSP00000340554.6:p.Gly9483Val
ENST00000359218.10:c.28247G>T (TTN)	ENSP00000352154.5:p.Gly9416Val
ENST00000342175.10:c.28448G>T (TTN)	ENSP00000340554.6:p.Gly9483Val
ENST00000342992.10:c.47363G>T (TTN)	ENSP00000343764.6:p.Gly15788Val
ENST00000359218.9:c.28247G>T (TTN)	ENSP00000352154.5:p.Gly9416Val
ENST00000460472.6:c.27872G>T (TTN)	ENSP00000434586.1:p.Gly9291Val
ENST00000589042.5:c.55067G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly18356Val
ENST00000591111.5:c.50144G>T (TTN)	ENSP00000465570.1:p.Gly16715Val
ENST00000615779.4:c.50144G>T (TTN)	ENSP00000483597.1:p.Gly16715Val
NM_001256850.1:c.50144G>T (TTN)	NP_001243779.1:p.Gly16715Val
NM_001267550.2:c.55067G>T (TTN) MANE Select	NP_001254479.2:p.Gly18356Val
NM_003319.4:c.27872G>T (TTN)	NP_003310.4:p.Gly9291Val
NM_133378.4:c.47363G>T (TTN)	NP_596869.4:p.Gly15788Val
NM_133432.3:c.28247G>T (TTN)	NP_597676.3:p.Gly9416Val
NM_133437.4:c.28448G>T (TTN)	NP_597681.4:p.Gly9483Val
NR_038271.1:n.682+4654C>A (TTN-AS1)
NR_038272.1:n.3917+1668C>A (TTN-AS1)
XM_011511729.1:c.54164G>T (TTN)	XP_011510031.1:p.Gly18055Val
XM_011511730.1:c.28058G>T (TTN)	XP_011510032.1:p.Gly9353Val
XM_011511731.1:c.27917G>T (TTN)	XP_011510033.1:p.Gly9306Val
XM_017004819.1:c.53960G>T (TTN)	XP_016860308.1:p.Gly17987Val
XM_017004820.1:c.49358G>T (TTN)	XP_016860309.1:p.Gly16453Val
XM_017004821.1:c.49355G>T (TTN)	XP_016860310.1:p.Gly16452Val
XM_017004822.1:c.46397G>T (TTN)	XP_016860311.1:p.Gly15466Val
XM_017004823.1:c.28013G>T (TTN)	XP_016860312.1:p.Gly9338Val
XM_024453094.1:c.49508G>T (TTN)	XP_024308862.1:p.Gly16503Val
XM_024453095.1:c.49505G>T (TTN)	XP_024308863.1:p.Gly16502Val
XM_024453096.1:c.48938G>T (TTN)	XP_024308864.1:p.Gly16313Val
XM_024453097.1:c.46280G>T (TTN)	XP_024308865.1:p.Gly15427Val
XM_024453098.1:c.46199G>T (TTN)	XP_024308866.1:p.Gly15400Val
XM_024453099.1:c.27962G>T (TTN)	XP_024308867.1:p.Gly9321Val
XM_024453100.1:c.17816G>T (TTN)	XP_024308868.1:p.Gly5939Val