Canonical Allele Identifier: CA762256644

Gene: COL5A2

Linked Data

• dbSNP Id: rs1358904800
• gnomAD v3: 2-189050302-G-GA
• gnomAD v4: 2-189050302-G-GA
• MyVariant Identifiers: chr2:g.189915028_189915029insA (hg19) ; chr2:g.189050302_189050303insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050304dup , CM000664.2:g.189050304dup	GRCh38
NC_000002.11:g.189915030dup , CM000664.1:g.189915030dup	GRCh37
NC_000002.10:g.189623275dup	NCBI36
NG_011799.1:g.134577dup
NG_011799.2:g.134577dup
NG_011799.3:g.179999dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+266dup MANE Select	ENSP00000364000.3:n.3039+266dup
ENST00000374866.7:c.3039+266dup	ENSP00000364000.3:n.3039+266dup
ENST00000618828.1:c.1878+266dup	ENSP00000482184.1:n.1878+266dup
NM_000393.3:c.3039+266dup	NP_000384.2:n.3039+266dup
XM_011510573.1:c.2901+266dup	XP_011508875.1:n.2901+266dup
NM_000393.4:c.3039+266dup	NP_000384.2:n.3039+266dup
XM_011510573.3:c.2901+266dup	XP_011508875.1:n.2901+266dup
NM_000393.5:c.3039+266dup MANE Select	NP_000384.2:n.3039+266dup