Canonical Allele Identifier: CA368220301
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1791843469
gnomAD v3: 7-94408225-C-G
gnomAD v4: 7-94408225-C-G
MyVariant Identifiers: chr7:g.94037537C>G (hg19) chr7:g.94408225C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408225C>G , CM000669.2:g.94408225C>G GRCh38
NC_000007.13:g.94037537C>G , CM000669.1:g.94037537C>G GRCh37
NC_000007.12:g.93875473C>G NCBI36
NG_007405.1:g.18665C>G , LRG_2:g.18665C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.682C>G MANE Select ENSP00000297268.6:p.Pro228Ala
ENST00000297268.10:c.682C>G ENSP00000297268.6:p.Pro228Ala
ENST00000620463.1:c.676C>G ENSP00000477719.1:p.Pro226Ala
NM_000089.3:c.682C>G , LRG_2t1:c.682C>G NP_000080.2:p.Pro228Ala
NM_000089.4:c.682C>G MANE Select NP_000080.2:p.Pro228Ala
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Search 100 bp 3'