Canonical Allele Identifier: CA2022505

Gene: COL5A2

Linked Data

• dbSNP Id: rs778456794
• ExAC: 2:189927567 C / A
• gnomAD v2: 2-189927567-C-A
• gnomAD v3: 2-189062841-C-A
• gnomAD v4: 2-189062841-C-A
• MyVariant Identifiers: chr2:g.189927567C>A (hg19) ; chr2:g.189062841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062841C>A , CM000664.2:g.189062841C>A	GRCh38
NC_000002.11:g.189927567C>A , CM000664.1:g.189927567C>A	GRCh37
NC_000002.10:g.189635812C>A	NCBI36
NG_011799.1:g.122039G>T
NG_011799.2:g.122039G>T
NG_011799.3:g.167461G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+24G>T MANE Select	ENSP00000364000.3:n.1977+24G>T
ENST00000374866.7:c.1977+24G>T	ENSP00000364000.3:n.1977+24G>T
ENST00000470524.2:n.83+24G>T
ENST00000618828.1:c.816+24G>T	ENSP00000482184.1:n.816+24G>T
NM_000393.3:c.1977+24G>T	NP_000384.2:n.1977+24G>T
XM_011510573.1:c.1839+24G>T	XP_011508875.1:n.1839+24G>T
NM_000393.4:c.1977+24G>T	NP_000384.2:n.1977+24G>T
XM_011510573.3:c.1839+24G>T	XP_011508875.1:n.1839+24G>T
NM_000393.5:c.1977+24G>T MANE Select	NP_000384.2:n.1977+24G>T