Canonical Allele Identifier: CA576321777

Gene: COL1A2

Linked Data

• dbSNP Id: rs1267381874
• gnomAD v2: 7-94038591-C-T
• gnomAD v3: 7-94409279-C-T
• gnomAD v4: 7-94409279-C-T
• MyVariant Identifiers: chr7:g.94038591C>T (hg19) ; chr7:g.94409279C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94409279C>T , CM000669.2:g.94409279C>T	GRCh38
NC_000007.13:g.94038591C>T , CM000669.1:g.94038591C>T	GRCh37
NC_000007.12:g.93876527C>T	NCBI36
NG_007405.1:g.19719C>T , LRG_2:g.19719C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.793-43C>T MANE Select	ENSP00000297268.6:n.793-43C>T
ENST00000297268.10:c.793-43C>T	ENSP00000297268.6:n.793-43C>T
ENST00000620463.1:c.787-43C>T	ENSP00000477719.1:n.787-43C>T
NM_000089.3:c.793-43C>T , LRG_2t1:c.793-43C>T	NP_000080.2:n.793-43C>T
NM_000089.4:c.793-43C>T MANE Select	NP_000080.2:n.793-43C>T