Canonical Allele Identifier: CA4346836
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94409337G>A
GRCh37 chr7:g.94038649G>A
Revel Score:
ENST00000297268 (MANE Select) 0.247
ENST00000545487 0.247
gnomAD v2:
7:94038649 G / A
gnomAD v3:
7:94409337 G / A
gnomAD v4:
chr7-94409337-G-A
Joint Max Group AF 0.00344419 (NFE)
Genomes Max Group AF 0.00274498 (NFE)
Exomes Max Group AF 0.00346789 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409337G>A , CM000669.2:g.94409337G>A GRCh38
NC_000007.13:g.94038649G>A , CM000669.1:g.94038649G>A GRCh37
NC_000007.12:g.93876585G>A NCBI36
NG_007405.1:g.19777G>A , LRG_2:g.19777G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.808G>A MANE Select ENSP00000297268.6:p.Val270Ile
ENST00000297268.10:c.808G>A ENSP00000297268.6:p.Val270Ile
ENST00000620463.1:c.802G>A ENSP00000477719.1:p.Val268Ile
NM_000089.3:c.808G>A , LRG_2t1:c.808G>A NP_000080.2:p.Val270Ile
NM_000089.4:c.808G>A MANE Select NP_000080.2:p.Val270Ile
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