Canonical Allele Identifier: CA4347145
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94413927C>A
GRCh37 chr7:g.94043239C>A
Revel Score:
ENST00000297268 (MANE Select) 0.309
ENST00000545487 0.309
gnomAD v2:
7:94043239 C / A
gnomAD v3:
7:94413927 C / A
gnomAD v4:
chr7-94413927-C-A
Joint Max Group AF 0.00000443 (AFR)
Exomes Max Group AF 7.2e-7 (NFE)
dbSNP:
42524
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1645C>A MANE Select ENSP00000297268.6:p.Pro549Thr
ENST00000297268.10:c.1645C>A ENSP00000297268.6:p.Pro549Thr
ENST00000488298.5:n.69C>A
ENST00000620463.1:c.1639C>A ENSP00000477719.1:p.Pro547Thr
NM_000089.3:c.1645C>A , LRG_2t1:c.1645C>A NP_000080.2:p.Pro549Thr
NM_000089.4:c.1645C>A MANE Select NP_000080.2:p.Pro549Thr
Search 100 bp 5'
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