Canonical Allele Identifier: CA368222911

Gene: COL1A2

Linked Data

• dbSNP Id: rs1424635412
• gnomAD v2: 7-94047114-G-T
• gnomAD v4: 7-94417802-G-T
• MyVariant Identifiers: chr7:g.94047114G>T (hg19) ; chr7:g.94417802G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94417802G>T , CM000669.2:g.94417802G>T	GRCh38
NC_000007.13:g.94047114G>T , CM000669.1:g.94047114G>T	GRCh37
NC_000007.12:g.93885050G>T	NCBI36
NG_007405.1:g.28242G>T , LRG_2:g.28242G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.1942G>T MANE Select	ENSP00000297268.6:p.Ala648Ser
ENST00000297268.10:c.1942G>T	ENSP00000297268.6:p.Ala648Ser
ENST00000461525.5:n.31G>T
ENST00000473573.5:n.279G>T
ENST00000497316.5:n.339G>T
ENST00000620463.1:c.1936G>T	ENSP00000477719.1:p.Ala646Ser
NM_000089.3:c.1942G>T , LRG_2t1:c.1942G>T	NP_000080.2:p.Ala648Ser
NM_000089.4:c.1942G>T MANE Select	NP_000080.2:p.Ala648Ser