Canonical Allele Identifier: CA2527218395

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050249_189050250insTTTAAGCTTAATGGGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG , CM000664.2:g.189050249_189050250insTTTAAGCTTAATGGGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG	GRCh38
NC_000002.11:g.189914975_189914976insTTTAAGCTTAATGGGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG , CM000664.1:g.189914975_189914976insTTTAAGCTTAATGGGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG	GRCh37
NC_000002.10:g.189623220_189623221insTTTAAGCTTAATGGGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG	NCBI36
NG_011799.1:g.134630_134631insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA
NG_011799.2:g.134630_134631insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA
NG_011799.3:g.180052_180053insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+319_3039+320insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA MANE Select	ENSP00000364000.3:n.3039+319_3039+320insCATTGGAAAGTGGATGTGCCT...
ENST00000374866.7:c.3039+319_3039+320insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA	ENSP00000364000.3:n.3039+319_3039+320insCATTGGAAAGTGGATGTGCCT...
ENST00000618828.1:c.1878+319_1878+320insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA	ENSP00000482184.1:n.1878+319_1878+320insCATTGGAAAGTGGATGTGCCT...
NM_000393.3:c.3039+319_3039+320insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA	NP_000384.2:n.3039+319_3039+320insCATTGGAAAGTGGATGTGCCTACCGTG...
XM_011510573.1:c.2901+319_2901+320insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA	XP_011508875.1:n.2901+319_2901+320insCATTGGAAAGTGGATGTGCCTACC...
NM_000393.4:c.3039+319_3039+320insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA	NP_000384.2:n.3039+319_3039+320insCATTGGAAAGTGGATGTGCCTACCGTG...
XM_011510573.3:c.2901+319_2901+320insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA	XP_011508875.1:n.2901+319_2901+320insCATTGGAAAGTGGATGTGCCTACC...
NM_000393.5:c.3039+319_3039+320insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCCCATTAAGCTTAAA MANE Select	NP_000384.2:n.3039+319_3039+320insCATTGGAAAGTGGATGTGCCTACCGTG...