Canonical Allele Identifier: CA62590192

Gene: COL5A2

Linked Data

• dbSNP Id: rs552164448
• gnomAD v2: 2-189910771-ATTTTAC-A
• gnomAD v3: 2-189046045-ATTTTAC-A
• gnomAD v4: 2-189046045-ATTTTAC-A
• MyVariant Identifiers: chr2:g.189910772_189910777del (hg19) ; chr2:g.189046046_189046051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046048_189046053del , CM000664.2:g.189046048_189046053del	GRCh38
NC_000002.11:g.189910774_189910779del , CM000664.1:g.189910774_189910779del	GRCh37
NC_000002.10:g.189619019_189619024del	NCBI36
NG_011799.1:g.138829_138834del
NG_011799.2:g.138829_138834del
NG_011799.3:g.184251_184256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-144_3202-139del MANE Select	ENSP00000364000.3:n.3202-144_3202-139del
ENST00000374866.7:c.3202-144_3202-139del	ENSP00000364000.3:n.3202-144_3202-139del
ENST00000618828.1:c.2041-144_2041-139del	ENSP00000482184.1:n.2041-144_2041-139del
NM_000393.3:c.3202-144_3202-139del	NP_000384.2:n.3202-144_3202-139del
XM_011510573.1:c.3064-144_3064-139del	XP_011508875.1:n.3064-144_3064-139del
NM_000393.4:c.3202-144_3202-139del	NP_000384.2:n.3202-144_3202-139del
XM_011510573.3:c.3064-144_3064-139del	XP_011508875.1:n.3064-144_3064-139del
NM_000393.5:c.3202-144_3202-139del MANE Select	NP_000384.2:n.3202-144_3202-139del