Canonical Allele Identifier: CA368223286
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94420276G>C
GRCh37 chr7:g.94049588G>C
Revel Score:
ENST00000297268 (MANE Select) 0.650
ENST00000545487 0.650
gnomAD v4:
chr7-94420276-G-C
Joint Max Group AF 0.00000443 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV002233929
RCV004025401
ClinVar Variation:
526886
dbSNP:
72658163
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94420276G>C , CM000669.2:g.94420276G>C GRCh38
NC_000007.13:g.94049588G>C , CM000669.1:g.94049588G>C GRCh37
NC_000007.12:g.93887524G>C NCBI36
NG_007405.1:g.30716G>C , LRG_2:g.30716G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2123G>C MANE Select ENSP00000297268.6:p.Arg708Pro
ENST00000297268.10:c.2123G>C ENSP00000297268.6:p.Arg708Pro
ENST00000461525.5:n.212G>C
ENST00000467931.1:n.143G>C
ENST00000473573.5:n.460G>C
ENST00000497316.5:n.520G>C
ENST00000620463.1:c.2117G>C ENSP00000477719.1:p.Arg706Pro
NM_000089.3:c.2123G>C , LRG_2t1:c.2123G>C NP_000080.2:p.Arg708Pro
NM_000089.4:c.2123G>C MANE Select NP_000080.2:p.Arg708Pro
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