Canonical Allele Identifier: CA762256614
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1321080649
MyVariant Identifiers: chr2:g.189914981C>G (hg19) chr2:g.189050255C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050255C>G , CM000664.2:g.189050255C>G GRCh38
NC_000002.11:g.189914981C>G , CM000664.1:g.189914981C>G GRCh37
NC_000002.10:g.189623226C>G NCBI36
NG_011799.1:g.134625G>C
NG_011799.2:g.134625G>C
NG_011799.3:g.180047G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+314G>C MANE Select ENSP00000364000.3:n.3039+314G>C
ENST00000374866.7:c.3039+314G>C ENSP00000364000.3:n.3039+314G>C
ENST00000618828.1:c.1878+314G>C ENSP00000482184.1:n.1878+314G>C
NM_000393.3:c.3039+314G>C NP_000384.2:n.3039+314G>C
XM_011510573.1:c.2901+314G>C XP_011508875.1:n.2901+314G>C
NM_000393.4:c.3039+314G>C NP_000384.2:n.3039+314G>C
XM_011510573.3:c.2901+314G>C XP_011508875.1:n.2901+314G>C
NM_000393.5:c.3039+314G>C MANE Select NP_000384.2:n.3039+314G>C
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