Canonical Allele Identifier: CA2662320043

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189098843-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098848del , CM000664.2:g.189098848del	GRCh38
NC_000002.11:g.189963574del , CM000664.1:g.189963574del	GRCh37
NC_000002.10:g.189671819del	NCBI36
NG_011799.1:g.86036del
NG_011799.2:g.86036del
NG_011799.3:g.131458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.370-85del MANE Select	ENSP00000364000.3:n.370-85del
ENST00000649966.1:c.232-85del	ENSP00000496785.1:n.232-85del
ENST00000374866.7:c.370-85del	ENSP00000364000.3:n.370-85del
ENST00000618828.1:c.-261-85del	ENSP00000482184.1:n.-261-85del
NM_000393.3:c.370-85del	NP_000384.2:n.370-85del
XM_011510573.1:c.232-85del	XP_011508875.1:n.232-85del
NM_000393.4:c.370-85del	NP_000384.2:n.370-85del
XM_011510573.3:c.232-85del	XP_011508875.1:n.232-85del
NM_000393.5:c.370-85del MANE Select	NP_000384.2:n.370-85del