Canonical Allele Identifier: CA2022495

Gene: COL5A2

Linked Data

• dbSNP Id: rs751754783
• ExAC: 2:189927542 A / G
• gnomAD v2: 2-189927542-A-G
• gnomAD v3: 2-189062816-A-G
• gnomAD v4: 2-189062816-A-G
• MyVariant Identifiers: chr2:g.189927542A>G (hg19) ; chr2:g.189062816A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062816A>G , CM000664.2:g.189062816A>G	GRCh38
NC_000002.11:g.189927542A>G , CM000664.1:g.189927542A>G	GRCh37
NC_000002.10:g.189635787A>G	NCBI36
NG_011799.1:g.122064T>C
NG_011799.2:g.122064T>C
NG_011799.3:g.167486T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+49T>C MANE Select	ENSP00000364000.3:n.1977+49T>C
ENST00000374866.7:c.1977+49T>C	ENSP00000364000.3:n.1977+49T>C
ENST00000470524.2:n.83+49T>C
ENST00000618828.1:c.816+49T>C	ENSP00000482184.1:n.816+49T>C
NM_000393.3:c.1977+49T>C	NP_000384.2:n.1977+49T>C
XM_011510573.1:c.1839+49T>C	XP_011508875.1:n.1839+49T>C
NM_000393.4:c.1977+49T>C	NP_000384.2:n.1977+49T>C
XM_011510573.3:c.1839+49T>C	XP_011508875.1:n.1839+49T>C
NM_000393.5:c.1977+49T>C MANE Select	NP_000384.2:n.1977+49T>C