Canonical Allele Identifier: CA456630229
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2566487
ClinVar RCV Id: RCV003293658
MyVariant Identifiers: chr7:g.94056944C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94427632C>G , CM000669.2:g.94427632C>G GRCh38
NC_000007.13:g.94056944C>G , CM000669.1:g.94056944C>G GRCh37
NC_000007.12:g.93894880C>G NCBI36
NG_007405.1:g.38072C>G , LRG_2:g.38072C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.3273C>G MANE Select ENSP00000297268.6:p.Pro1091=
ENST00000297268.10:c.3273C>G ENSP00000297268.6:p.Pro1091=
ENST00000464916.1:n.321C>G
ENST00000481570.5:n.4054C>G
ENST00000620463.1:c.3267C>G ENSP00000477719.1:p.Pro1089=
NM_000089.3:c.3273C>G , LRG_2t1:c.3273C>G NP_000080.2:p.Pro1091=
NM_000089.4:c.3273C>G MANE Select NP_000080.2:p.Pro1091=
Search 100 bp 5'
Search 100 bp 3'