Canonical Allele Identifier: CA162908755

Gene: COL1A2

Linked Data

• dbSNP Id: rs978531129
• gnomAD v2: 7-94030999-T-C
• gnomAD v3: 7-94401687-T-C
• gnomAD v4: 7-94401687-T-C
• MyVariant Identifiers: chr7:g.94030999T>C (hg19) ; chr7:g.94401687T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401687T>C , CM000669.2:g.94401687T>C	GRCh38
NC_000007.13:g.94030999T>C , CM000669.1:g.94030999T>C	GRCh37
NC_000007.12:g.93868935T>C	NCBI36
NG_007405.1:g.12127T>C , LRG_2:g.12127T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+67T>C MANE Select	ENSP00000297268.6:n.279+67T>C
ENST00000297268.10:c.279+67T>C	ENSP00000297268.6:n.279+67T>C
ENST00000620463.1:c.273+67T>C	ENSP00000477719.1:n.273+67T>C
NM_000089.3:c.279+67T>C , LRG_2t1:c.279+67T>C	NP_000080.2:n.279+67T>C
NM_000089.4:c.279+67T>C MANE Select	NP_000080.2:n.279+67T>C