Canonical Allele Identifier: CA62595233
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1003909841
MyVariant Identifiers: chr2:g.189915605A>T (hg19) chr2:g.189050879A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050879A>T , CM000664.2:g.189050879A>T GRCh38
NC_000002.11:g.189915605A>T , CM000664.1:g.189915605A>T GRCh37
NC_000002.10:g.189623850A>T NCBI36
NG_011799.1:g.134001T>A
NG_011799.2:g.134001T>A
NG_011799.3:g.179423T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2932-203T>A MANE Select ENSP00000364000.3:n.2932-203T>A
ENST00000374866.7:c.2932-203T>A ENSP00000364000.3:n.2932-203T>A
ENST00000618828.1:c.1771-203T>A ENSP00000482184.1:n.1771-203T>A
NM_000393.3:c.2932-203T>A NP_000384.2:n.2932-203T>A
XM_011510573.1:c.2794-203T>A XP_011508875.1:n.2794-203T>A
NM_000393.4:c.2932-203T>A NP_000384.2:n.2932-203T>A
XM_011510573.3:c.2794-203T>A XP_011508875.1:n.2794-203T>A
NM_000393.5:c.2932-203T>A MANE Select NP_000384.2:n.2932-203T>A
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