Canonical Allele Identifier: CA4347146
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94413927C>T
GRCh37 chr7:g.94043239C>T
Revel Score:
ENST00000297268 (MANE Select) 0.348
ENST00000545487 0.348
gnomAD v2:
7:94043239 C / T
gnomAD v3:
7:94413927 C / T
gnomAD v4:
chr7-94413927-C-T
Joint Max Group AF 0.00005787 (EAS)
Genomes Max Group AF 0.00003253 (AFR)
Exomes Max Group AF 0.00006511 (EAS)
ClinVar RCV:
RCV002240628
RCV003442196
ClinVar Variation:
862080
dbSNP:
42524
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94413927C>T , CM000669.2:g.94413927C>T GRCh38
NC_000007.13:g.94043239C>T , CM000669.1:g.94043239C>T GRCh37
NC_000007.12:g.93881175C>T NCBI36
NG_007405.1:g.24367C>T , LRG_2:g.24367C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1645C>T MANE Select ENSP00000297268.6:p.Pro549Ser
ENST00000297268.10:c.1645C>T ENSP00000297268.6:p.Pro549Ser
ENST00000488298.5:n.69C>T
ENST00000620463.1:c.1639C>T ENSP00000477719.1:p.Pro547Ser
NM_000089.3:c.1645C>T , LRG_2t1:c.1645C>T NP_000080.2:p.Pro549Ser
NM_000089.4:c.1645C>T MANE Select NP_000080.2:p.Pro549Ser
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