Canonical Allele Identifier: CA2753575561

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050676_189050677insAGGTTGCCCATCTTCTCCTGGGTCCCCTTTGTCTCCTGGGCCACCAGGGGGGCCAGCTGGTCCTCGATCTCCCACACG , CM000664.2:g.189050676_189050677insAGGTTGCCCATCTTCTCCTGGGTCCCCTTTGTCTCCTGGGCCACCAGGGGGGCCAGCTGGTCCTCGATCTCCCACACG	GRCh38
NC_000002.11:g.189915402_189915403insAGGTTGCCCATCTTCTCCTGGGTCCCCTTTGTCTCCTGGGCCACCAGGGGGGCCAGCTGGTCCTCGATCTCCCACACG , CM000664.1:g.189915402_189915403insAGGTTGCCCATCTTCTCCTGGGTCCCCTTTGTCTCCTGGGCCACCAGGGGGGCCAGCTGGTCCTCGATCTCCCACACG	GRCh37
NC_000002.10:g.189623647_189623648insAGGTTGCCCATCTTCTCCTGGGTCCCCTTTGTCTCCTGGGCCACCAGGGGGGCCAGCTGGTCCTCGATCTCCCACACG	NCBI36
NG_011799.1:g.134203_134204insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT
NG_011799.2:g.134203_134204insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT
NG_011799.3:g.179625_179626insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT MANE Select	ENSP00000364000.3:n.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGC...
ENST00000374866.7:c.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT	ENSP00000364000.3:n.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGC...
ENST00000618828.1:c.1771-1_1771insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT	ENSP00000482184.1:n.1771-1_1771insCGTGTGGGAGATCGAGGACCAGCTGGC...
NM_000393.3:c.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT	NP_000384.2:n.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCT...
XM_011510573.1:c.2794-1_2794insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT	XP_011508875.1:n.2794-1_2794insCGTGTGGGAGATCGAGGACCAGCTGGCCCC...
NM_000393.4:c.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT	NP_000384.2:n.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCT...
XM_011510573.3:c.2794-1_2794insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT	XP_011508875.1:n.2794-1_2794insCGTGTGGGAGATCGAGGACCAGCTGGCCCC...
NM_000393.5:c.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCT MANE Select	NP_000384.2:n.2932-1_2932insCGTGTGGGAGATCGAGGACCAGCTGGCCCCCCT...