Canonical Allele Identifier: CA368221296
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94410501G>C
GRCh37 chr7:g.94039813G>C
Revel Score:
ENST00000297268 (MANE Select) 0.928
ENST00000545487 0.928
ClinVar RCV:
RCV002251215
ClinVar Variation:
1687533
dbSNP:
67707918
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94410501G>C , CM000669.2:g.94410501G>C GRCh38
NC_000007.13:g.94039813G>C , CM000669.1:g.94039813G>C GRCh37
NC_000007.12:g.93877749G>C NCBI36
NG_007405.1:g.20941G>C , LRG_2:g.20941G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1171G>C MANE Select ENSP00000297268.6:p.Gly391Arg
ENST00000297268.10:c.1171G>C ENSP00000297268.6:p.Gly391Arg
ENST00000620463.1:c.1165G>C ENSP00000477719.1:p.Gly389Arg
NM_000089.3:c.1171G>C , LRG_2t1:c.1171G>C NP_000080.2:p.Gly391Arg
NM_000089.4:c.1171G>C MANE Select NP_000080.2:p.Gly391Arg
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