Canonical Allele Identifier: CA2662317780
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189050663-G-GGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050664_189050666dup , CM000664.2:g.189050664_189050666dup GRCh38
NC_000002.11:g.189915390_189915392dup , CM000664.1:g.189915390_189915392dup GRCh37
NC_000002.10:g.189623635_189623637dup NCBI36
NG_011799.1:g.134214_134216dup
NG_011799.2:g.134214_134216dup
NG_011799.3:g.179636_179638dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2942_2944dup MANE Select ENSP00000364000.3:p.Gly981_Pro982insArg
ENST00000374866.7:c.2942_2944dup ENSP00000364000.3:p.Gly981_Pro982insArg
ENST00000618828.1:c.1781_1783dup ENSP00000482184.1:p.Gly594_Pro595insArg
NM_000393.3:c.2942_2944dup NP_000384.2:p.Gly981_Pro982insArg
XM_011510573.1:c.2804_2806dup XP_011508875.1:p.Gly935_Pro936insArg
NM_000393.4:c.2942_2944dup NP_000384.2:p.Gly981_Pro982insArg
XM_011510573.3:c.2804_2806dup XP_011508875.1:p.Gly935_Pro936insArg
NM_000393.5:c.2942_2944dup MANE Select NP_000384.2:p.Gly981_Pro982insArg
Search 100 bp 5'
Search 100 bp 3'