Canonical Allele Identifier: CA368220296
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1163005
ClinVar RCV Id: RCV001507699
dbSNP Id: rs375401215
MyVariant Identifiers: chr7:g.94037534G>T (hg19) chr7:g.94408222G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408222G>T , CM000669.2:g.94408222G>T GRCh38
NC_000007.13:g.94037534G>T , CM000669.1:g.94037534G>T GRCh37
NC_000007.12:g.93875470G>T NCBI36
NG_007405.1:g.18662G>T , LRG_2:g.18662G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.679G>T MANE Select ENSP00000297268.6:p.Ala227Ser
ENST00000297268.10:c.679G>T ENSP00000297268.6:p.Ala227Ser
ENST00000620463.1:c.673G>T ENSP00000477719.1:p.Ala225Ser
NM_000089.3:c.679G>T , LRG_2t1:c.679G>T NP_000080.2:p.Ala227Ser
NM_000089.4:c.679G>T MANE Select NP_000080.2:p.Ala227Ser
Search 100 bp 5'
Search 100 bp 3'