Canonical Allele Identifier: CA368220124
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94407848G>A
GRCh37 chr7:g.94037160G>A
Revel Score:
ENST00000297268 (MANE Select) 0.964
ENST00000545487 0.964
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94407848G>A , CM000669.2:g.94407848G>A GRCh38
NC_000007.13:g.94037160G>A , CM000669.1:g.94037160G>A GRCh37
NC_000007.12:g.93875096G>A NCBI36
NG_007405.1:g.18288G>A , LRG_2:g.18288G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.596G>A MANE Select ENSP00000297268.6:p.Gly199Asp
ENST00000297268.10:c.596G>A ENSP00000297268.6:p.Gly199Asp
ENST00000620463.1:c.590G>A ENSP00000477719.1:p.Gly197Asp
NM_000089.3:c.596G>A , LRG_2t1:c.596G>A NP_000080.2:p.Gly199Asp
NM_000089.4:c.596G>A MANE Select NP_000080.2:p.Gly199Asp
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