Canonical Allele Identifier: CA368220848
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94409732G>A
GRCh37 chr7:g.94039044G>A
Revel Score:
ENST00000297268 (MANE Select) 0.981
ENST00000545487 0.981
gnomAD v3:
7:94409732 G / A
gnomAD v4:
chr7-94409732-G-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409732G>A , CM000669.2:g.94409732G>A GRCh38
NC_000007.13:g.94039044G>A , CM000669.1:g.94039044G>A GRCh37
NC_000007.12:g.93876980G>A NCBI36
NG_007405.1:g.20172G>A , LRG_2:g.20172G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.946G>A MANE Select ENSP00000297268.6:p.Gly316Ser
ENST00000297268.10:c.946G>A ENSP00000297268.6:p.Gly316Ser
ENST00000620463.1:c.940G>A ENSP00000477719.1:p.Gly314Ser
NM_000089.3:c.946G>A , LRG_2t1:c.946G>A NP_000080.2:p.Gly316Ser
NM_000089.4:c.946G>A MANE Select NP_000080.2:p.Gly316Ser
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