Canonical Allele Identifier: CA2740352009

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189059257_189059258insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG , CM000664.2:g.189059257_189059258insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG	GRCh38
NC_000002.11:g.189923983_189923984insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG , CM000664.1:g.189923983_189923984insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG	GRCh37
NC_000002.10:g.189632228_189632229insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG	NCBI36
NG_011799.1:g.125622_125623insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC
NG_011799.2:g.125622_125623insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC
NG_011799.3:g.171044_171045insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-365_2086-364insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC MANE Select	ENSP00000364000.3:n.2086-365_2086-364insCGGCCTCCCAAAGTGCTGGGA...
ENST00000374866.7:c.2086-365_2086-364insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	ENSP00000364000.3:n.2086-365_2086-364insCGGCCTCCCAAAGTGCTGGGA...
ENST00000470524.2:n.192-365_192-364insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC
ENST00000618828.1:c.925-365_925-364insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	ENSP00000482184.1:n.925-365_925-364insCGGCCTCCCAAAGTGCTGGGATT...
NM_000393.3:c.2086-365_2086-364insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	NP_000384.2:n.2086-365_2086-364insCGGCCTCCCAAAGTGCTGGGATTACAG...
XM_011510573.1:c.1948-365_1948-364insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	XP_011508875.1:n.1948-365_1948-364insCGGCCTCCCAAAGTGCTGGGATTA...
NM_000393.4:c.2086-365_2086-364insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	NP_000384.2:n.2086-365_2086-364insCGGCCTCCCAAAGTGCTGGGATTACAG...
XM_011510573.3:c.1948-365_1948-364insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	XP_011508875.1:n.1948-365_1948-364insCGGCCTCCCAAAGTGCTGGGATTA...
NM_000393.5:c.2086-365_2086-364insCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC MANE Select	NP_000384.2:n.2086-365_2086-364insCGGCCTCCCAAAGTGCTGGGATTACAG...