Canonical Allele Identifier: CA368219435
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94404563-T-G
MyVariant Identifiers: chr7:g.94033875T>G (hg19) chr7:g.94404563T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404563T>G , CM000669.2:g.94404563T>G GRCh38
NC_000007.13:g.94033875T>G , CM000669.1:g.94033875T>G GRCh37
NC_000007.12:g.93871811T>G NCBI36
NG_007405.1:g.15003T>G , LRG_2:g.15003T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.287T>G MANE Select ENSP00000297268.6:p.Met96Arg
ENST00000297268.10:c.287T>G ENSP00000297268.6:p.Met96Arg
ENST00000620463.1:c.281T>G ENSP00000477719.1:p.Met94Arg
NM_000089.3:c.287T>G , LRG_2t1:c.287T>G NP_000080.2:p.Met96Arg
NM_000089.4:c.287T>G MANE Select NP_000080.2:p.Met96Arg
Search 100 bp 5'
Search 100 bp 3'