Canonical Allele Identifier: CA4347644
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs753397550
ExAC: 7:94055738 C / G
gnomAD v2: 7-94055738-C-G
gnomAD v4: 7-94426426-C-G
MyVariant Identifiers: chr7:g.94055738C>G (hg19) chr7:g.94426426C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426426C>G , CM000669.2:g.94426426C>G GRCh38
NC_000007.13:g.94055738C>G , CM000669.1:g.94055738C>G GRCh37
NC_000007.12:g.93893674C>G NCBI36
NG_007405.1:g.36866C>G , LRG_2:g.36866C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3001C>G MANE Select ENSP00000297268.6:p.Pro1001Ala
ENST00000297268.10:c.3001C>G ENSP00000297268.6:p.Pro1001Ala
ENST00000478215.1:n.560C>G
ENST00000481570.5:n.2974C>G
ENST00000620463.1:c.2995C>G ENSP00000477719.1:p.Pro999Ala
NM_000089.3:c.3001C>G , LRG_2t1:c.3001C>G NP_000080.2:p.Pro1001Ala
NM_000089.4:c.3001C>G MANE Select NP_000080.2:p.Pro1001Ala
Search 100 bp 5'
Search 100 bp 3'