Canonical Allele Identifier: CA162908098
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs971655860
gnomAD v2: 7-94030573-C-T
gnomAD v3: 7-94401261-C-T
gnomAD v4: 7-94401261-C-T
MyVariant Identifiers: chr7:g.94030573C>T (hg19) chr7:g.94401261C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401261C>T , CM000669.2:g.94401261C>T GRCh38
NC_000007.13:g.94030573C>T , CM000669.1:g.94030573C>T GRCh37
NC_000007.12:g.93868509C>T NCBI36
NG_007405.1:g.11701C>T , LRG_2:g.11701C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-306C>T MANE Select ENSP00000297268.6:n.226-306C>T
ENST00000297268.10:c.226-306C>T ENSP00000297268.6:n.226-306C>T
ENST00000620463.1:c.220-306C>T ENSP00000477719.1:n.220-306C>T
NM_000089.3:c.226-306C>T , LRG_2t1:c.226-306C>T NP_000080.2:n.226-306C>T
NM_000089.4:c.226-306C>T MANE Select NP_000080.2:n.226-306C>T
Search 100 bp 5'
Search 100 bp 3'