Canonical Allele Identifier: CA538451957

Gene: COL5A2

Linked Data

• dbSNP Id: rs1559079273
• gnomAD v2: 2-189915313-G-GAT
• gnomAD v4: 2-189050587-G-GAT
• MyVariant Identifiers: chr2:g.189915313_189915314insAT (hg19) ; chr2:g.189050587_189050588insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050587_189050588insAT , CM000664.2:g.189050587_189050588insAT	GRCh38
NC_000002.11:g.189915313_189915314insAT , CM000664.1:g.189915313_189915314insAT	GRCh37
NC_000002.10:g.189623558_189623559insAT	NCBI36
NG_011799.1:g.134292_134293insAT
NG_011799.2:g.134292_134293insAT
NG_011799.3:g.179714_179715insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3020_3021insAT MANE Select	ENSP00000364000.3:p.Gly1008SerfsTer13
ENST00000374866.7:c.3020_3021insAT	ENSP00000364000.3:p.Gly1008SerfsTer13
ENST00000618828.1:c.1859_1860insAT	ENSP00000482184.1:p.Gly621SerfsTer13
NM_000393.3:c.3020_3021insAT	NP_000384.2:p.Gly1008SerfsTer13
XM_011510573.1:c.2882_2883insAT	XP_011508875.1:p.Gly962SerfsTer13
NM_000393.4:c.3020_3021insAT	NP_000384.2:p.Gly1008SerfsTer13
XM_011510573.3:c.2882_2883insAT	XP_011508875.1:p.Gly962SerfsTer13
NM_000393.5:c.3020_3021insAT MANE Select	NP_000384.2:p.Gly1008SerfsTer13