Canonical Allele Identifier: CA2683769660
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94415166-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415166T>C , CM000669.2:g.94415166T>C GRCh38
NC_000007.13:g.94044478T>C , CM000669.1:g.94044478T>C GRCh37
NC_000007.12:g.93882414T>C NCBI36
NG_007405.1:g.25606T>C , LRG_2:g.25606T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1720-60T>C MANE Select ENSP00000297268.6:n.1720-60T>C
ENST00000297268.10:c.1720-60T>C ENSP00000297268.6:n.1720-60T>C
ENST00000473573.5:n.57-60T>C
ENST00000488298.5:n.144-60T>C
ENST00000620463.1:c.1714-60T>C ENSP00000477719.1:n.1714-60T>C
NM_000089.3:c.1720-60T>C , LRG_2t1:c.1720-60T>C NP_000080.2:n.1720-60T>C
NM_000089.4:c.1720-60T>C MANE Select NP_000080.2:n.1720-60T>C
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