Canonical Allele Identifier: CA4347474
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152577
ClinVar RCV Id: RCV003075066
dbSNP Id: rs375155526
ExAC: 7:94052419 G / T
gnomAD v2: 7-94052419-G-T
gnomAD v4: 7-94423107-G-T
MyVariant Identifiers: chr7:g.94052419G>T (hg19) chr7:g.94423107G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423107G>T , CM000669.2:g.94423107G>T GRCh38
NC_000007.13:g.94052419G>T , CM000669.1:g.94052419G>T GRCh37
NC_000007.12:g.93890355G>T NCBI36
NG_007405.1:g.33547G>T , LRG_2:g.33547G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2554G>T MANE Select ENSP00000297268.6:p.Ala852Ser
ENST00000297268.10:c.2554G>T ENSP00000297268.6:p.Ala852Ser
ENST00000481570.5:n.637G>T
ENST00000497316.5:n.951G>T
ENST00000620463.1:c.2548G>T ENSP00000477719.1:p.Ala850Ser
NM_000089.3:c.2554G>T , LRG_2t1:c.2554G>T NP_000080.2:p.Ala852Ser
NM_000089.4:c.2554G>T MANE Select NP_000080.2:p.Ala852Ser
Search 100 bp 5'
Search 100 bp 3'