Canonical Allele Identifier: CA538454037

Gene: COL5A2

Linked Data

• dbSNP Id: rs1407650713
• gnomAD v2: 2-189927531-G-A
• gnomAD v3: 2-189062805-G-A
• gnomAD v4: 2-189062805-G-A
• MyVariant Identifiers: chr2:g.189927531G>A (hg19) ; chr2:g.189062805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062805G>A , CM000664.2:g.189062805G>A	GRCh38
NC_000002.11:g.189927531G>A , CM000664.1:g.189927531G>A	GRCh37
NC_000002.10:g.189635776G>A	NCBI36
NG_011799.1:g.122075C>T
NG_011799.2:g.122075C>T
NG_011799.3:g.167497C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.1977+60C>T MANE Select	ENSP00000364000.3:n.1977+60C>T
ENST00000374866.7:c.1977+60C>T	ENSP00000364000.3:n.1977+60C>T
ENST00000470524.2:n.83+60C>T
ENST00000618828.1:c.816+60C>T	ENSP00000482184.1:n.816+60C>T
NM_000393.3:c.1977+60C>T	NP_000384.2:n.1977+60C>T
XM_011510573.1:c.1839+60C>T	XP_011508875.1:n.1839+60C>T
NM_000393.4:c.1977+60C>T	NP_000384.2:n.1977+60C>T
XM_011510573.3:c.1839+60C>T	XP_011508875.1:n.1839+60C>T
NM_000393.5:c.1977+60C>T MANE Select	NP_000384.2:n.1977+60C>T