Canonical Allele Identifier: CA368222899
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94047108G>A (hg19) chr7:g.94417796G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417796G>A , CM000669.2:g.94417796G>A GRCh38
NC_000007.13:g.94047108G>A , CM000669.1:g.94047108G>A GRCh37
NC_000007.12:g.93885044G>A NCBI36
NG_007405.1:g.28236G>A , LRG_2:g.28236G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1936G>A MANE Select ENSP00000297268.6:p.Gly646Ser
ENST00000297268.10:c.1936G>A ENSP00000297268.6:p.Gly646Ser
ENST00000461525.5:n.25G>A
ENST00000473573.5:n.273G>A
ENST00000497316.5:n.333G>A
ENST00000620463.1:c.1930G>A ENSP00000477719.1:p.Gly644Ser
NM_000089.3:c.1936G>A , LRG_2t1:c.1936G>A NP_000080.2:p.Gly646Ser
NM_000089.4:c.1936G>A MANE Select NP_000080.2:p.Gly646Ser
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