Canonical Allele Identifier: CA62594959

Gene: COL5A2

Linked Data

• dbSNP Id: rs867211652
• gnomAD v2: 2-189915230-A-G
• gnomAD v3: 2-189050504-A-G
• gnomAD v4: 2-189050504-A-G
• MyVariant Identifiers: chr2:g.189915230A>G (hg19) ; chr2:g.189050504A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050504A>G , CM000664.2:g.189050504A>G	GRCh38
NC_000002.11:g.189915230A>G , CM000664.1:g.189915230A>G	GRCh37
NC_000002.10:g.189623475A>G	NCBI36
NG_011799.1:g.134376T>C
NG_011799.2:g.134376T>C
NG_011799.3:g.179798T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+65T>C MANE Select	ENSP00000364000.3:n.3039+65T>C
ENST00000374866.7:c.3039+65T>C	ENSP00000364000.3:n.3039+65T>C
ENST00000618828.1:c.1878+65T>C	ENSP00000482184.1:n.1878+65T>C
NM_000393.3:c.3039+65T>C	NP_000384.2:n.3039+65T>C
XM_011510573.1:c.2901+65T>C	XP_011508875.1:n.2901+65T>C
NM_000393.4:c.3039+65T>C	NP_000384.2:n.3039+65T>C
XM_011510573.3:c.2901+65T>C	XP_011508875.1:n.2901+65T>C
NM_000393.5:c.3039+65T>C MANE Select	NP_000384.2:n.3039+65T>C