Canonical Allele Identifier: CA368223207
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94420233G>A
GRCh37 chr7:g.94049545G>A
Revel Score:
ENST00000297268 (MANE Select) 0.973
ENST00000545487 0.973
ClinVar RCV:
RCV002050651
ClinVar Variation:
1347642
dbSNP:
121912908
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94420233G>A , CM000669.2:g.94420233G>A GRCh38
NC_000007.13:g.94049545G>A , CM000669.1:g.94049545G>A GRCh37
NC_000007.12:g.93887481G>A NCBI36
NG_007405.1:g.30673G>A , LRG_2:g.30673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2080G>A MANE Select ENSP00000297268.6:p.Gly694Ser
ENST00000297268.10:c.2080G>A ENSP00000297268.6:p.Gly694Ser
ENST00000461525.5:n.169G>A
ENST00000467931.1:n.100G>A
ENST00000473573.5:n.417G>A
ENST00000497316.5:n.477G>A
ENST00000620463.1:c.2074G>A ENSP00000477719.1:p.Gly692Ser
NM_000089.3:c.2080G>A , LRG_2t1:c.2080G>A NP_000080.2:p.Gly694Ser
NM_000089.4:c.2080G>A MANE Select NP_000080.2:p.Gly694Ser
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