Canonical Allele Identifier: CA456490311
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 508331
ClinVar RCV Id: RCV000607385 RCV002063073 RCV003160082
dbSNP Id: rs1554398439
gnomAD v4: 7-94426425-C-T
MyVariant Identifiers: chr7:g.94055737C>T (hg19) chr7:g.94426425C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426425C>T , CM000669.2:g.94426425C>T GRCh38
NC_000007.13:g.94055737C>T , CM000669.1:g.94055737C>T GRCh37
NC_000007.12:g.93893673C>T NCBI36
NG_007405.1:g.36865C>T , LRG_2:g.36865C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3000C>T MANE Select ENSP00000297268.6:p.Gly1000=
ENST00000297268.10:c.3000C>T ENSP00000297268.6:p.Gly1000=
ENST00000478215.1:n.559C>T
ENST00000481570.5:n.2973C>T
ENST00000620463.1:c.2994C>T ENSP00000477719.1:p.Gly998=
NM_000089.3:c.3000C>T , LRG_2t1:c.3000C>T NP_000080.2:p.Gly1000=
NM_000089.4:c.3000C>T MANE Select NP_000080.2:p.Gly1000=
Search 100 bp 5'
Search 100 bp 3'