Canonical Allele Identifier: CA2683769671
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94415186-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415186C>T , CM000669.2:g.94415186C>T GRCh38
NC_000007.13:g.94044498C>T , CM000669.1:g.94044498C>T GRCh37
NC_000007.12:g.93882434C>T NCBI36
NG_007405.1:g.25626C>T , LRG_2:g.25626C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1720-40C>T MANE Select ENSP00000297268.6:n.1720-40C>T
ENST00000297268.10:c.1720-40C>T ENSP00000297268.6:n.1720-40C>T
ENST00000473573.5:n.57-40C>T
ENST00000488298.5:n.144-40C>T
ENST00000620463.1:c.1714-40C>T ENSP00000477719.1:n.1714-40C>T
NM_000089.3:c.1720-40C>T , LRG_2t1:c.1720-40C>T NP_000080.2:n.1720-40C>T
NM_000089.4:c.1720-40C>T MANE Select NP_000080.2:n.1720-40C>T
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