Canonical Allele Identifier: CA260337
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94411099G>A
GRCh37 chr7:g.94040411G>A
Revel Score:
ENST00000297268 (MANE Select) 0.486
ENST00000545487 0.486
gnomAD v2:
7:94040411 G / A
gnomAD v3:
7:94411099 G / A
gnomAD v4:
chr7-94411099-G-A
Joint Max Group AF 0.00034857 (AFR)
Genomes Max Group AF 0.00040499 (AFR)
Exomes Max Group AF 0.00018405 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94411099G>A , CM000669.2:g.94411099G>A GRCh38
NC_000007.13:g.94040411G>A , CM000669.1:g.94040411G>A GRCh37
NC_000007.12:g.93878347G>A NCBI36
NG_007405.1:g.21539G>A , LRG_2:g.21539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1295G>A MANE Select ENSP00000297268.6:p.Arg432Gln
ENST00000297268.10:c.1295G>A ENSP00000297268.6:p.Arg432Gln
ENST00000620463.1:c.1289G>A ENSP00000477719.1:p.Arg430Gln
NM_000089.3:c.1295G>A , LRG_2t1:c.1295G>A NP_000080.2:p.Arg432Gln
NM_000089.4:c.1295G>A MANE Select NP_000080.2:p.Arg432Gln
Search 100 bp 5'
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