Canonical Allele Identifier: CA162919692
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1071306
ClinVar RCV Id: RCV002225133 RCV002242821
dbSNP Id: rs67210352
MyVariant Identifiers: chr7:g.94038698G>C (hg19) chr7:g.94409386G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409386G>C , CM000669.2:g.94409386G>C GRCh38
NC_000007.13:g.94038698G>C , CM000669.1:g.94038698G>C GRCh37
NC_000007.12:g.93876634G>C NCBI36
NG_007405.1:g.19826G>C , LRG_2:g.19826G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.857G>C MANE Select ENSP00000297268.6:p.Gly286Ala
ENST00000297268.10:c.857G>C ENSP00000297268.6:p.Gly286Ala
ENST00000620463.1:c.851G>C ENSP00000477719.1:p.Gly284Ala
NM_000089.3:c.857G>C , LRG_2t1:c.857G>C NP_000080.2:p.Gly286Ala
NM_000089.4:c.857G>C MANE Select NP_000080.2:p.Gly286Ala
Search 100 bp 5'
Search 100 bp 3'