Canonical Allele Identifier: CA368225084
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94055747A>G (hg19) chr7:g.94426435A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426435A>G , CM000669.2:g.94426435A>G GRCh38
NC_000007.13:g.94055747A>G , CM000669.1:g.94055747A>G GRCh37
NC_000007.12:g.93893683A>G NCBI36
NG_007405.1:g.36875A>G , LRG_2:g.36875A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3010A>G MANE Select ENSP00000297268.6:p.Ile1004Val
ENST00000297268.10:c.3010A>G ENSP00000297268.6:p.Ile1004Val
ENST00000478215.1:n.569A>G
ENST00000481570.5:n.2983A>G
ENST00000620463.1:c.3004A>G ENSP00000477719.1:p.Ile1002Val
NM_000089.3:c.3010A>G , LRG_2t1:c.3010A>G NP_000080.2:p.Ile1004Val
NM_000089.4:c.3010A>G MANE Select NP_000080.2:p.Ile1004Val
Search 100 bp 5'
Search 100 bp 3'