Canonical Allele Identifier: CA1315419121
Gene: COL5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189046203T= , CM000664.2:g.189046203T= GRCh38
NC_000002.11:g.189910929T= , CM000664.1:g.189910929T= GRCh37
NC_000002.10:g.189619174T= NCBI36
NG_011799.1:g.138677A=
NG_011799.2:g.138677A=
NG_011799.3:g.184099A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3202-296A= MANE Select ENSP00000364000.3:n.3202-296A=
ENST00000374866.7:c.3202-296A= ENSP00000364000.3:n.3202-296A=
ENST00000618828.1:c.2041-296A= ENSP00000482184.1:n.2041-296A=
NM_000393.3:c.3202-296A= NP_000384.2:n.3202-296A=
XM_011510573.1:c.3064-296A= XP_011508875.1:n.3064-296A=
NM_000393.4:c.3202-296A= NP_000384.2:n.3202-296A=
XM_011510573.3:c.3064-296A= XP_011508875.1:n.3064-296A=
NM_000393.5:c.3202-296A= MANE Select NP_000384.2:n.3202-296A=
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