Canonical Allele Identifier: CA538451955

Gene: COL5A2

Linked Data

• dbSNP Id: rs1256493772
• gnomAD v2: 2-189915255-GCA-G
• gnomAD v4: 2-189050529-GCA-G
• MyVariant Identifiers: chr2:g.189915256_189915257del (hg19) ; chr2:g.189050530_189050531del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050532_189050533del , CM000664.2:g.189050532_189050533del	GRCh38
NC_000002.11:g.189915258_189915259del , CM000664.1:g.189915258_189915259del	GRCh37
NC_000002.10:g.189623503_189623504del	NCBI36
NG_011799.1:g.134349_134350del
NG_011799.2:g.134349_134350del
NG_011799.3:g.179771_179772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+38_3039+39del MANE Select	ENSP00000364000.3:n.3039+38_3039+39del
ENST00000374866.7:c.3039+38_3039+39del	ENSP00000364000.3:n.3039+38_3039+39del
ENST00000618828.1:c.1878+38_1878+39del	ENSP00000482184.1:n.1878+38_1878+39del
NM_000393.3:c.3039+38_3039+39del	NP_000384.2:n.3039+38_3039+39del
XM_011510573.1:c.2901+38_2901+39del	XP_011508875.1:n.2901+38_2901+39del
NM_000393.4:c.3039+38_3039+39del	NP_000384.2:n.3039+38_3039+39del
XM_011510573.3:c.2901+38_2901+39del	XP_011508875.1:n.2901+38_2901+39del
NM_000393.5:c.3039+38_3039+39del MANE Select	NP_000384.2:n.3039+38_3039+39del