Canonical Allele Identifier: CA2557775275

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050321_189050322insTCTCCTGTT , CM000664.2:g.189050321_189050322insTCTCCTGTT	GRCh38
NC_000002.11:g.189915047_189915048insTCTCCTGTT , CM000664.1:g.189915047_189915048insTCTCCTGTT	GRCh37
NC_000002.10:g.189623292_189623293insTCTCCTGTT	NCBI36
NG_011799.1:g.134558_134559insAACAGGAGA
NG_011799.2:g.134558_134559insAACAGGAGA
NG_011799.3:g.179980_179981insAACAGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+247_3039+248insAACAGGAGA MANE Select	ENSP00000364000.3:n.3039+247_3039+248insAACAGGAGA
ENST00000374866.7:c.3039+247_3039+248insAACAGGAGA	ENSP00000364000.3:n.3039+247_3039+248insAACAGGAGA
ENST00000618828.1:c.1878+247_1878+248insAACAGGAGA	ENSP00000482184.1:n.1878+247_1878+248insAACAGGAGA
NM_000393.3:c.3039+247_3039+248insAACAGGAGA	NP_000384.2:n.3039+247_3039+248insAACAGGAGA
XM_011510573.1:c.2901+247_2901+248insAACAGGAGA	XP_011508875.1:n.2901+247_2901+248insAACAGGAGA
NM_000393.4:c.3039+247_3039+248insAACAGGAGA	NP_000384.2:n.3039+247_3039+248insAACAGGAGA
XM_011510573.3:c.2901+247_2901+248insAACAGGAGA	XP_011508875.1:n.2901+247_2901+248insAACAGGAGA
NM_000393.5:c.3039+247_3039+248insAACAGGAGA MANE Select	NP_000384.2:n.3039+247_3039+248insAACAGGAGA