Canonical Allele Identifier: CA368219446
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94033880C>G (hg19) chr7:g.94404568C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404568C>G , CM000669.2:g.94404568C>G GRCh38
NC_000007.13:g.94033880C>G , CM000669.1:g.94033880C>G GRCh37
NC_000007.12:g.93871816C>G NCBI36
NG_007405.1:g.15008C>G , LRG_2:g.15008C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.292C>G MANE Select ENSP00000297268.6:p.Pro98Ala
ENST00000297268.10:c.292C>G ENSP00000297268.6:p.Pro98Ala
ENST00000620463.1:c.286C>G ENSP00000477719.1:p.Pro96Ala
NM_000089.3:c.292C>G , LRG_2t1:c.292C>G NP_000080.2:p.Pro98Ala
NM_000089.4:c.292C>G MANE Select NP_000080.2:p.Pro98Ala
Search 100 bp 5'
Search 100 bp 3'