Canonical Allele Identifier: CA62594832

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 681213
• ClinVar RCV Id: RCV000841071
• dbSNP Id: rs11277110
• gnomAD v2: 2-189915006-CTCCGGGA-C
• gnomAD v3: 2-189050280-CTCCGGGA-C
• gnomAD v4: 2-189050280-CTCCGGGA-C
• MyVariant Identifiers: chr2:g.189915007_189915013del (hg19) ; chr2:g.189050281_189050287del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050283_189050289del , CM000664.2:g.189050283_189050289del	GRCh38
NC_000002.11:g.189915009_189915015del , CM000664.1:g.189915009_189915015del	GRCh37
NC_000002.10:g.189623254_189623260del	NCBI36
NG_011799.1:g.134593_134599del
NG_011799.2:g.134593_134599del
NG_011799.3:g.180015_180021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+282_3039+288del MANE Select	ENSP00000364000.3:n.3039+282_3039+288del
ENST00000374866.7:c.3039+282_3039+288del	ENSP00000364000.3:n.3039+282_3039+288del
ENST00000618828.1:c.1878+282_1878+288del	ENSP00000482184.1:n.1878+282_1878+288del
NM_000393.3:c.3039+282_3039+288del	NP_000384.2:n.3039+282_3039+288del
XM_011510573.1:c.2901+282_2901+288del	XP_011508875.1:n.2901+282_2901+288del
NM_000393.4:c.3039+282_3039+288del	NP_000384.2:n.3039+282_3039+288del
XM_011510573.3:c.2901+282_2901+288del	XP_011508875.1:n.2901+282_2901+288del
NM_000393.5:c.3039+282_3039+288del MANE Select	NP_000384.2:n.3039+282_3039+288del