Canonical Allele Identifier: CA538445076

Gene: COL5A2

Linked Data

• dbSNP Id: rs1482333856
• gnomAD v2: 2-189963556-AT-A
• MyVariant Identifiers: chr2:g.189963557del (hg19) ; chr2:g.189098831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098831del , CM000664.2:g.189098831del	GRCh38
NC_000002.11:g.189963557del , CM000664.1:g.189963557del	GRCh37
NC_000002.10:g.189671802del	NCBI36
NG_011799.1:g.86049del
NG_011799.2:g.86049del
NG_011799.3:g.131471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.370-72del MANE Select	ENSP00000364000.3:n.370-72del
ENST00000649966.1:c.232-72del	ENSP00000496785.1:n.232-72del
ENST00000374866.7:c.370-72del	ENSP00000364000.3:n.370-72del
ENST00000618828.1:c.-261-72del	ENSP00000482184.1:n.-261-72del
NM_000393.3:c.370-72del	NP_000384.2:n.370-72del
XM_011510573.1:c.232-72del	XP_011508875.1:n.232-72del
NM_000393.4:c.370-72del	NP_000384.2:n.370-72del
XM_011510573.3:c.232-72del	XP_011508875.1:n.232-72del
NM_000393.5:c.370-72del MANE Select	NP_000384.2:n.370-72del