Canonical Allele Identifier: CA1726763281
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415192C= , CM000669.2:g.94415192C= GRCh38
NC_000007.13:g.94044504C= , CM000669.1:g.94044504C= GRCh37
NC_000007.12:g.93882440C= NCBI36
NG_007405.1:g.25632C= , LRG_2:g.25632C=

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1720-34C= MANE Select ENSP00000297268.6:n.1720-34C=
ENST00000297268.10:c.1720-34C= ENSP00000297268.6:n.1720-34C=
ENST00000473573.5:n.57-34C=
ENST00000488298.5:n.144-34C=
ENST00000620463.1:c.1714-34C= ENSP00000477719.1:n.1714-34C=
NM_000089.3:c.1720-34C= , LRG_2t1:c.1720-34C= NP_000080.2:n.1720-34C=
NM_000089.4:c.1720-34C= MANE Select NP_000080.2:n.1720-34C=
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