Canonical Allele Identifier: CA62578040

Gene: COL5A2

Linked Data

• dbSNP Id: rs116015859
• gnomAD v2: 2-189963387-T-C
• gnomAD v3: 2-189098661-T-C
• gnomAD v4: 2-189098661-T-C
• MyVariant Identifiers: chr2:g.189963387T>C (hg19) ; chr2:g.189098661T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098661T>C , CM000664.2:g.189098661T>C	GRCh38
NC_000002.11:g.189963387T>C , CM000664.1:g.189963387T>C	GRCh37
NC_000002.10:g.189671632T>C	NCBI36
NG_011799.1:g.86219A>G
NG_011799.2:g.86219A>G
NG_011799.3:g.131641A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.402+66A>G MANE Select	ENSP00000364000.3:n.402+66A>G
ENST00000649966.1:c.264+66A>G	ENSP00000496785.1:n.264+66A>G
ENST00000374866.7:c.402+66A>G	ENSP00000364000.3:n.402+66A>G
ENST00000618828.1:c.-229+66A>G	ENSP00000482184.1:n.-229+66A>G
NM_000393.3:c.402+66A>G	NP_000384.2:n.402+66A>G
XM_011510573.1:c.264+66A>G	XP_011508875.1:n.264+66A>G
NM_000393.4:c.402+66A>G	NP_000384.2:n.402+66A>G
XM_011510573.3:c.264+66A>G	XP_011508875.1:n.264+66A>G
NM_000393.5:c.402+66A>G MANE Select	NP_000384.2:n.402+66A>G