Canonical Allele Identifier: CA349640266

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179489226C>A (hg19) ; chr2:g.178624499C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624499C>A , CM000664.2:g.178624499C>A	GRCh38
NC_000002.11:g.179489226C>A , CM000664.1:g.179489226C>A	GRCh37
NC_000002.10:g.179197471C>A	NCBI36
NG_011618.3:g.211304G>T , LRG_391:g.211304G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37077G>T	ENSP00000343764.6:p.Lys12359Asn
ENST00000342175.11:c.18162G>T	ENSP00000340554.6:p.Lys6054Asn
ENST00000359218.10:c.17961G>T	ENSP00000352154.5:p.Lys5987Asn
ENST00000342175.10:c.18162G>T	ENSP00000340554.6:p.Lys6054Asn
ENST00000342992.10:c.37077G>T	ENSP00000343764.6:p.Lys12359Asn
ENST00000359218.9:c.17961G>T	ENSP00000352154.5:p.Lys5987Asn
ENST00000460472.6:c.17586G>T	ENSP00000434586.1:p.Lys5862Asn
ENST00000589042.5:c.44781G>T MANE Select	ENSP00000467141.1:p.Lys14927Asn
ENST00000591111.5:c.39858G>T	ENSP00000465570.1:p.Lys13286Asn
ENST00000615779.4:c.39858G>T	ENSP00000483597.1:p.Lys13286Asn
NM_001256850.1:c.39858G>T	NP_001243779.1:p.Lys13286Asn
NM_001267550.2:c.44781G>T MANE Select	NP_001254479.2:p.Lys14927Asn
NM_003319.4:c.17586G>T	NP_003310.4:p.Lys5862Asn
NM_133378.4:c.37077G>T	NP_596869.4:p.Lys12359Asn
NM_133432.3:c.17961G>T	NP_597676.3:p.Lys5987Asn
NM_133437.4:c.18162G>T	NP_597681.4:p.Lys6054Asn
XM_011511729.1:c.43878G>T	XP_011510031.1:p.Lys14626Asn
XM_011511730.1:c.17772G>T	XP_011510032.1:p.Lys5924Asn
XM_011511731.1:c.17631G>T	XP_011510033.1:p.Lys5877Asn
XM_017004819.1:c.43674G>T	XP_016860308.1:p.Lys14558Asn
XM_017004820.1:c.39072G>T	XP_016860309.1:p.Lys13024Asn
XM_017004821.1:c.39069G>T	XP_016860310.1:p.Lys13023Asn
XM_017004822.1:c.36111G>T	XP_016860311.1:p.Lys12037Asn
XM_017004823.1:c.17727G>T	XP_016860312.1:p.Lys5909Asn
XM_024453094.1:c.39222G>T	XP_024308862.1:p.Lys13074Asn
XM_024453095.1:c.39219G>T	XP_024308863.1:p.Lys13073Asn
XM_024453096.1:c.38652G>T	XP_024308864.1:p.Lys12884Asn
XM_024453097.1:c.35994G>T	XP_024308865.1:p.Lys11998Asn
XM_024453098.1:c.35913G>T	XP_024308866.1:p.Lys11971Asn
XM_024453099.1:c.17676G>T	XP_024308867.1:p.Lys5892Asn
XM_024453100.1:c.7530G>T	XP_024308868.1:p.Lys2510Asn