Canonical Allele Identifier: CA349855001
Gene: COL5A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189899745T>G (hg19) chr2:g.189035019T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189035019T>G , CM000664.2:g.189035019T>G GRCh38
NC_000002.11:g.189899745T>G , CM000664.1:g.189899745T>G GRCh37
NC_000002.10:g.189607990T>G NCBI36
NG_011799.1:g.149861A>C
NG_011799.2:g.149861A>C
NG_011799.3:g.195283A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.4250A>C MANE Select ENSP00000364000.3:p.Lys1417Thr
ENST00000374866.7:c.4250A>C ENSP00000364000.3:p.Lys1417Thr
ENST00000618828.1:c.3089A>C ENSP00000482184.1:p.Lys1030Thr
NM_000393.3:c.4250A>C NP_000384.2:p.Lys1417Thr
XM_011510573.1:c.4112A>C XP_011508875.1:p.Lys1371Thr
NM_000393.4:c.4250A>C NP_000384.2:p.Lys1417Thr
XM_011510573.3:c.4112A>C XP_011508875.1:p.Lys1371Thr
NM_000393.5:c.4250A>C MANE Select NP_000384.2:p.Lys1417Thr
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