Canonical Allele Identifier: CA576324203
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1192025428
gnomAD v2: 7-94054981-T-C
gnomAD v3: 7-94425669-T-C
gnomAD v4: 7-94425669-T-C
MyVariant Identifiers: chr7:g.94054981T>C (hg19) chr7:g.94425669T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94425669T>C , CM000669.2:g.94425669T>C GRCh38
NC_000007.13:g.94054981T>C , CM000669.1:g.94054981T>C GRCh37
NC_000007.12:g.93892917T>C NCBI36
NG_007405.1:g.36109T>C , LRG_2:g.36109T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2835+6T>C MANE Select ENSP00000297268.6:n.2835+6T>C
ENST00000297268.10:c.2835+6T>C ENSP00000297268.6:n.2835+6T>C
ENST00000469732.1:n.618+6T>C
ENST00000478215.1:n.394+6T>C
ENST00000481570.5:n.2808+6T>C
ENST00000620463.1:c.2829+6T>C ENSP00000477719.1:n.2829+6T>C
NM_000089.3:c.2835+6T>C , LRG_2t1:c.2835+6T>C NP_000080.2:n.2835+6T>C
NM_000089.4:c.2835+6T>C MANE Select NP_000080.2:n.2835+6T>C
Search 100 bp 5'
Search 100 bp 3'