Canonical Allele Identifier: CA2543607536

Gene: COL5A2

Linked Data

• gnomAD v3: 2-189050295-AATCTTT-A
• gnomAD v4: 2-189050295-AATCTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050296_189050301del , CM000664.2:g.189050296_189050301del	GRCh38
NC_000002.11:g.189915022_189915027del , CM000664.1:g.189915022_189915027del	GRCh37
NC_000002.10:g.189623267_189623272del	NCBI36
NG_011799.1:g.134579_134584del
NG_011799.2:g.134579_134584del
NG_011799.3:g.180001_180006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+268_3039+273del MANE Select	ENSP00000364000.3:n.3039+268_3039+273del
ENST00000374866.7:c.3039+268_3039+273del	ENSP00000364000.3:n.3039+268_3039+273del
ENST00000618828.1:c.1878+268_1878+273del	ENSP00000482184.1:n.1878+268_1878+273del
NM_000393.3:c.3039+268_3039+273del	NP_000384.2:n.3039+268_3039+273del
XM_011510573.1:c.2901+268_2901+273del	XP_011508875.1:n.2901+268_2901+273del
NM_000393.4:c.3039+268_3039+273del	NP_000384.2:n.3039+268_3039+273del
XM_011510573.3:c.2901+268_2901+273del	XP_011508875.1:n.2901+268_2901+273del
NM_000393.5:c.3039+268_3039+273del MANE Select	NP_000384.2:n.3039+268_3039+273del