Canonical Allele Identifier: CA762241375

Gene: COL5A2

Linked Data

• dbSNP Id: rs1483078569
• MyVariant Identifiers: chr2:g.189927583_189927584del (hg19) ; chr2:g.189062857_189062858del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062857_189062858del , CM000664.2:g.189062857_189062858del	GRCh38
NC_000002.11:g.189927583_189927584del , CM000664.1:g.189927583_189927584del	GRCh37
NC_000002.10:g.189635828_189635829del	NCBI36
NG_011799.1:g.122022_122023del
NG_011799.2:g.122022_122023del
NG_011799.3:g.167444_167445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+7_1977+8del MANE Select	ENSP00000364000.3:n.1977+7_1977+8del
ENST00000374866.7:c.1977+7_1977+8del	ENSP00000364000.3:n.1977+7_1977+8del
ENST00000470524.2:n.83+7_83+8del
ENST00000618828.1:c.816+7_816+8del	ENSP00000482184.1:n.816+7_816+8del
NM_000393.3:c.1977+7_1977+8del	NP_000384.2:n.1977+7_1977+8del
XM_011510573.1:c.1839+7_1839+8del	XP_011508875.1:n.1839+7_1839+8del
NM_000393.4:c.1977+7_1977+8del	NP_000384.2:n.1977+7_1977+8del
XM_011510573.3:c.1839+7_1839+8del	XP_011508875.1:n.1839+7_1839+8del
NM_000393.5:c.1977+7_1977+8del MANE Select	NP_000384.2:n.1977+7_1977+8del