Canonical Allele Identifier: CA368220302
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1176234
ClinVar RCV Id: RCV001531677
dbSNP Id: rs1791843469
MyVariant Identifiers: chr7:g.94037537C>T (hg19) chr7:g.94408225C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408225C>T , CM000669.2:g.94408225C>T GRCh38
NC_000007.13:g.94037537C>T , CM000669.1:g.94037537C>T GRCh37
NC_000007.12:g.93875473C>T NCBI36
NG_007405.1:g.18665C>T , LRG_2:g.18665C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.682C>T MANE Select ENSP00000297268.6:p.Pro228Ser
ENST00000297268.10:c.682C>T ENSP00000297268.6:p.Pro228Ser
ENST00000620463.1:c.676C>T ENSP00000477719.1:p.Pro226Ser
NM_000089.3:c.682C>T , LRG_2t1:c.682C>T NP_000080.2:p.Pro228Ser
NM_000089.4:c.682C>T MANE Select NP_000080.2:p.Pro228Ser
Search 100 bp 5'
Search 100 bp 3'