Canonical Allele Identifier: CA16618575
Community Standard Title: NM_000089.4(COL1A2):c.1702G>A (p.Gly568Ser)
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94414258G>A , CM000669.2:g.94414258G>A GRCh38
NC_000007.13:g.94043570G>A , CM000669.1:g.94043570G>A GRCh37
NC_000007.12:g.93881506G>A NCBI36
NG_007405.1:g.24698G>A , LRG_2:g.24698G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.1702G>A MANE Select NP_000080.2:p.Gly568Ser
ENST00000297268.11:c.1702G>A MANE Select ENSP00000297268.6:p.Gly568Ser
NM_000089.3:c.1702G>A , LRG_2t1:c.1702G>A NP_000080.2:p.Gly568Ser
ENST00000297268.10:c.1702G>A ENSP00000297268.6:p.Gly568Ser
ENST00000473573.5:n.39G>A
ENST00000488298.5:n.126G>A
ENST00000620463.1:c.1696G>A ENSP00000477719.1:p.Gly566Ser
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