Canonical Allele Identifier: CA1726782899
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426229T= , CM000669.2:g.94426229T= GRCh38
NC_000007.13:g.94055541T= , CM000669.1:g.94055541T= GRCh37
NC_000007.12:g.93893477T= NCBI36
NG_007405.1:g.36669T= , LRG_2:g.36669T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2997+178T= MANE Select ENSP00000297268.6:n.2997+178T=
ENST00000297268.10:c.2997+178T= ENSP00000297268.6:n.2997+178T=
ENST00000478215.1:n.556+178T=
ENST00000481570.5:n.2970+178T=
ENST00000620463.1:c.2991+178T= ENSP00000477719.1:n.2991+178T=
NM_000089.3:c.2997+178T= , LRG_2t1:c.2997+178T= NP_000080.2:n.2997+178T=
NM_000089.4:c.2997+178T= MANE Select NP_000080.2:n.2997+178T=
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