Canonical Allele Identifier: CA1726783363
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426536T= , CM000669.2:g.94426536T= GRCh38
NC_000007.13:g.94055848T= , CM000669.1:g.94055848T= GRCh37
NC_000007.12:g.93893784T= NCBI36
NG_007405.1:g.36976T= , LRG_2:g.36976T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+6T= MANE Select ENSP00000297268.6:n.3105+6T=
ENST00000297268.10:c.3105+6T= ENSP00000297268.6:n.3105+6T=
ENST00000478215.1:n.670T=
ENST00000481570.5:n.3084T=
ENST00000488121.1:n.21+6T=
ENST00000620463.1:c.3099+6T= ENSP00000477719.1:n.3099+6T=
NM_000089.3:c.3105+6T= , LRG_2t1:c.3105+6T= NP_000080.2:n.3105+6T=
NM_000089.4:c.3105+6T= MANE Select NP_000080.2:n.3105+6T=
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