Canonical Allele Identifier: CA368225626
Community Standard Title: NM_000089.4(COL1A2):c.3269G>C (p.Gly1090Ala)
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94427628G>C , CM000669.2:g.94427628G>C GRCh38
NC_000007.13:g.94056940G>C , CM000669.1:g.94056940G>C GRCh37
NC_000007.12:g.93894876G>C NCBI36
NG_007405.1:g.38068G>C , LRG_2:g.38068G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.3269G>C MANE Select NP_000080.2:p.Gly1090Ala
ENST00000297268.11:c.3269G>C MANE Select ENSP00000297268.6:p.Gly1090Ala
NM_000089.3:c.3269G>C , LRG_2t1:c.3269G>C NP_000080.2:p.Gly1090Ala
ENST00000297268.10:c.3269G>C ENSP00000297268.6:p.Gly1090Ala
ENST00000464916.1:n.317G>C
ENST00000481570.5:n.4050G>C
ENST00000620463.1:c.3263G>C ENSP00000477719.1:p.Gly1088Ala
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