Canonical Allele Identifier: CA576321438

Gene: COL1A2

Linked Data

• dbSNP Id: rs1262333461
• gnomAD v2: 7-94030580-T-TAGAG
• MyVariant Identifiers: chr7:g.94030580_94030581insAGAG (hg19) ; chr7:g.94401268_94401269insAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401269_94401272dup , CM000669.2:g.94401269_94401272dup	GRCh38
NC_000007.13:g.94030581_94030584dup , CM000669.1:g.94030581_94030584dup	GRCh37
NC_000007.12:g.93868517_93868520dup	NCBI36
NG_007405.1:g.11709_11712dup , LRG_2:g.11709_11712dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-298_226-295dup MANE Select	ENSP00000297268.6:n.226-298_226-295dup
ENST00000297268.10:c.226-298_226-295dup	ENSP00000297268.6:n.226-298_226-295dup
ENST00000620463.1:c.220-298_220-295dup	ENSP00000477719.1:n.220-298_220-295dup
NM_000089.3:c.226-298_226-295dup , LRG_2t1:c.226-298_226-295dup	NP_000080.2:n.226-298_226-295dup
NM_000089.4:c.226-298_226-295dup MANE Select	NP_000080.2:n.226-298_226-295dup