Canonical Allele Identifier: CA349855263

Gene: COL5A2

Linked Data

• dbSNP Id: rs1247474254
• gnomAD v2: 2-189899853-T-G
• MyVariant Identifiers: chr2:g.189899853T>G (hg19) ; chr2:g.189035127T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035127T>G , CM000664.2:g.189035127T>G	GRCh38
NC_000002.11:g.189899853T>G , CM000664.1:g.189899853T>G	GRCh37
NC_000002.10:g.189608098T>G	NCBI36
NG_011799.1:g.149753A>C
NG_011799.2:g.149753A>C
NG_011799.3:g.195175A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4142A>C MANE Select	ENSP00000364000.3:p.Asn1381Thr
ENST00000374866.7:c.4142A>C	ENSP00000364000.3:p.Asn1381Thr
ENST00000618828.1:c.2981A>C	ENSP00000482184.1:p.Asn994Thr
NM_000393.3:c.4142A>C	NP_000384.2:p.Asn1381Thr
XM_011510573.1:c.4004A>C	XP_011508875.1:p.Asn1335Thr
NM_000393.4:c.4142A>C	NP_000384.2:p.Asn1381Thr
XM_011510573.3:c.4004A>C	XP_011508875.1:p.Asn1335Thr
NM_000393.5:c.4142A>C MANE Select	NP_000384.2:p.Asn1381Thr