Canonical Allele Identifier: CA430321273

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 2735601
• ClinVar RCV Id: RCV003593384
• gnomAD v4: 2-189045902-A-G
• MyVariant Identifiers: chr2:g.189910628A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045902A>G , CM000664.2:g.189045902A>G	GRCh38
NC_000002.11:g.189910628A>G , CM000664.1:g.189910628A>G	GRCh37
NC_000002.10:g.189618873A>G	NCBI36
NG_011799.1:g.138978T>C
NG_011799.2:g.138978T>C
NG_011799.3:g.184400T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3207T>C MANE Select	ENSP00000364000.3:p.Asp1069=
ENST00000374866.7:c.3207T>C	ENSP00000364000.3:p.Asp1069=
ENST00000618828.1:c.2046T>C	ENSP00000482184.1:p.Asp682=
NM_000393.3:c.3207T>C	NP_000384.2:p.Asp1069=
XM_011510573.1:c.3069T>C	XP_011508875.1:p.Asp1023=
NM_000393.4:c.3207T>C	NP_000384.2:p.Asp1069=
XM_011510573.3:c.3069T>C	XP_011508875.1:p.Asp1023=
NM_000393.5:c.3207T>C MANE Select	NP_000384.2:p.Asp1069=