Canonical Allele Identifier: CA1726792234
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404780T= , CM000669.2:g.94404780T= GRCh38
NC_000007.13:g.94034092T= , CM000669.1:g.94034092T= GRCh37
NC_000007.12:g.93872028T= NCBI36
NG_007405.1:g.15220T= , LRG_2:g.15220T=

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.378+34T= MANE Select ENSP00000297268.6:n.378+34T=
ENST00000297268.10:c.378+34T= ENSP00000297268.6:n.378+34T=
ENST00000620463.1:c.372+34T= ENSP00000477719.1:n.372+34T=
NM_000089.3:c.378+34T= , LRG_2t1:c.378+34T= NP_000080.2:n.378+34T=
NM_000089.4:c.378+34T= MANE Select NP_000080.2:n.378+34T=
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