Canonical Allele Identifier: CA368219290
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 489113
ClinVar RCV Id: RCV000579341
dbSNP Id: rs66820119
gnomAD v3: 7-94401566-G-T
gnomAD v4: 7-94401566-G-T
MyVariant Identifiers: chr7:g.94030878G>T (hg19) chr7:g.94401566G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401566G>T , CM000669.2:g.94401566G>T GRCh38
NC_000007.13:g.94030878G>T , CM000669.1:g.94030878G>T GRCh37
NC_000007.12:g.93868814G>T NCBI36
NG_007405.1:g.12006G>T , LRG_2:g.12006G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-1G>T MANE Select ENSP00000297268.6:n.226-1G>T
ENST00000297268.10:c.226-1G>T ENSP00000297268.6:n.226-1G>T
ENST00000620463.1:c.220-1G>T ENSP00000477719.1:n.220-1G>T
NM_000089.3:c.226-1G>T , LRG_2t1:c.226-1G>T NP_000080.2:n.226-1G>T
NM_000089.4:c.226-1G>T MANE Select NP_000080.2:n.226-1G>T
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