Canonical Allele Identifier: CA538451944

Gene: COL5A2

Linked Data

• gnomAD v2: 2-189914975-T-TTTTAAGCTTAATGTGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG
• MyVariant Identifiers: chr2:g.189914975_189914976insTTTAAGCTTAATGTGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG (hg19) ; chr2:g.189050249_189050250insTTTAAGCTTAATGTGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050249_189050250insTTTAAGCTTAATGTGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG , CM000664.2:g.189050249_189050250insTTTAAGCTTAATGTGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG	GRCh38
NC_000002.11:g.189914975_189914976insTTTAAGCTTAATGTGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG , CM000664.1:g.189914975_189914976insTTTAAGCTTAATGTGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG	GRCh37
NC_000002.10:g.189623220_189623221insTTTAAGCTTAATGTGCGAGAGGAAAGACTACCGGTTAAATCCACGGTAGGCACATCCACTTTCCAATG	NCBI36
NG_011799.1:g.134630_134631insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCACATTAAGCTTAAA
NG_011799.2:g.134630_134631insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCACATTAAGCTTAAA
NG_011799.3:g.180052_180053insCATTGGAAAGTGGATGTGCCTACCGTGGATTTAACCGGTAGTCTTTCCTCTCGCACATTAAGCTTAAA

Transcript Alleles

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