Canonical Allele Identifier: CA368219293
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94030879A>T (hg19) chr7:g.94401567A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401567A>T , CM000669.2:g.94401567A>T GRCh38
NC_000007.13:g.94030879A>T , CM000669.1:g.94030879A>T GRCh37
NC_000007.12:g.93868815A>T NCBI36
NG_007405.1:g.12007A>T , LRG_2:g.12007A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226A>T MANE Select ENSP00000297268.6:p.Asn76Tyr
ENST00000297268.10:c.226A>T ENSP00000297268.6:p.Asn76Tyr
ENST00000620463.1:c.220A>T ENSP00000477719.1:p.Asn74Tyr
NM_000089.3:c.226A>T , LRG_2t1:c.226A>T NP_000080.2:p.Asn76Tyr
NM_000089.4:c.226A>T MANE Select NP_000080.2:p.Asn76Tyr
Search 100 bp 5'
Search 100 bp 3'