Canonical Allele Identifier: CA2022501

Gene: COL5A2

Linked Data

• dbSNP Id: rs752418883
• ExAC: 2:189927562 TCA / T
• gnomAD v2: 2-189927562-TCA-T
• gnomAD v3: 2-189062836-TCA-T
• gnomAD v4: 2-189062836-TCA-T
• MyVariant Identifiers: chr2:g.189927563_189927564del (hg19) ; chr2:g.189062837_189062838del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062851_189062852del , CM000664.2:g.189062851_189062852del	GRCh38
NC_000002.11:g.189927577_189927578del , CM000664.1:g.189927577_189927578del	GRCh37
NC_000002.10:g.189635822_189635823del	NCBI36
NG_011799.1:g.122042_122043del
NG_011799.2:g.122042_122043del
NG_011799.3:g.167464_167465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+27_1977+28del MANE Select	ENSP00000364000.3:n.1977+27_1977+28del
ENST00000374866.7:c.1977+27_1977+28del	ENSP00000364000.3:n.1977+27_1977+28del
ENST00000470524.2:n.83+27_83+28del
ENST00000618828.1:c.816+27_816+28del	ENSP00000482184.1:n.816+27_816+28del
NM_000393.3:c.1977+27_1977+28del	NP_000384.2:n.1977+27_1977+28del
XM_011510573.1:c.1839+27_1839+28del	XP_011508875.1:n.1839+27_1839+28del
NM_000393.4:c.1977+27_1977+28del	NP_000384.2:n.1977+27_1977+28del
XM_011510573.3:c.1839+27_1839+28del	XP_011508875.1:n.1839+27_1839+28del
NM_000393.5:c.1977+27_1977+28del MANE Select	NP_000384.2:n.1977+27_1977+28del