Canonical Allele Identifier: CA2573142492
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1575076
ClinVar RCV Id: RCV002073768
dbSNP Id: rs2115947001
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94424463C>T , CM000669.2:g.94424463C>T GRCh38
NC_000007.13:g.94053775C>T , CM000669.1:g.94053775C>T GRCh37
NC_000007.12:g.93891711C>T NCBI36
NG_007405.1:g.34903C>T , LRG_2:g.34903C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2673+20C>T MANE Select ENSP00000297268.6:n.2673+20C>T
ENST00000297268.10:c.2673+20C>T ENSP00000297268.6:n.2673+20C>T
ENST00000469732.1:n.456+20C>T
ENST00000481570.5:n.1993C>T
ENST00000620463.1:c.2667+20C>T ENSP00000477719.1:n.2667+20C>T
NM_000089.3:c.2673+20C>T , LRG_2t1:c.2673+20C>T NP_000080.2:n.2673+20C>T
NM_000089.4:c.2673+20C>T MANE Select NP_000080.2:n.2673+20C>T
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