Canonical Allele Identifier: CA456488145
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1791843396
gnomAD v4: 7-94408224-C-T
MyVariant Identifiers: chr7:g.94037536C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408224C>T , CM000669.2:g.94408224C>T GRCh38
NC_000007.13:g.94037536C>T , CM000669.1:g.94037536C>T GRCh37
NC_000007.12:g.93875472C>T NCBI36
NG_007405.1:g.18664C>T , LRG_2:g.18664C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.681C>T MANE Select ENSP00000297268.6:p.Ala227=
ENST00000297268.10:c.681C>T ENSP00000297268.6:p.Ala227=
ENST00000620463.1:c.675C>T ENSP00000477719.1:p.Ala225=
NM_000089.3:c.681C>T , LRG_2t1:c.681C>T NP_000080.2:p.Ala227=
NM_000089.4:c.681C>T MANE Select NP_000080.2:p.Ala227=
Search 100 bp 5'
Search 100 bp 3'