Canonical Allele Identifier: CA689444504

Gene: COL2A1

Linked Data

• dbSNP Id: rs1421655062
• MyVariant Identifiers: chr12:g.48380003_48380005del (hg19) ; chr12:g.47986220_47986222del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47986225_47986227del , CM000674.2:g.47986225_47986227del	GRCh38
NC_000012.11:g.48380008_48380010del , CM000674.1:g.48380008_48380010del	GRCh37
NC_000012.10:g.46666275_46666277del	NCBI36
NG_008072.1:g.23281_23283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1320+114_1320+116del	ENSP00000338213.6:n.1320+114_1320+116del
ENST00000380518.8:c.1527+114_1527+116del MANE Select	ENSP00000369889.3:n.1527+114_1527+116del
ENST00000337299.6:c.1320+114_1320+116del	ENSP00000338213.6:n.1320+114_1320+116del
ENST00000380518.7:c.1527+114_1527+116del	ENSP00000369889.3:n.1527+114_1527+116del
ENST00000493991.5:n.451+114_451+116del
NM_001844.4:c.1527+114_1527+116del	NP_001835.3:n.1527+114_1527+116del
NM_033150.2:c.1320+114_1320+116del	NP_149162.2:n.1320+114_1320+116del
XM_006719242.2:c.1671+114_1671+116del	XP_006719305.2:n.1671+114_1671+116del
XM_011537928.1:c.1671+114_1671+116del	XP_011536230.1:n.1671+114_1671+116del
XM_011537929.1:c.1671+114_1671+116del	XP_011536231.1:n.1671+114_1671+116del
XM_011537930.1:c.1671+114_1671+116del	XP_011536232.1:n.1671+114_1671+116del
XM_011537931.1:c.1671+114_1671+116del	XP_011536233.1:n.1671+114_1671+116del
XM_011537932.1:c.1671+114_1671+116del	XP_011536234.1:n.1671+114_1671+116del
XM_011537933.1:c.1671+114_1671+116del	XP_011536235.1:n.1671+114_1671+116del
XM_011537934.1:c.1668+114_1668+116del	XP_011536236.1:n.1668+114_1668+116del
XM_011537935.1:c.615+114_615+116del	XP_011536237.1:n.615+114_615+116del
XM_017018828.1:c.1671+114_1671+116del	XP_016874317.1:n.1671+114_1671+116del
XM_017018829.1:c.1668+114_1668+116del	XP_016874318.1:n.1668+114_1668+116del
XM_017018830.1:c.1461+114_1461+116del	XP_016874319.1:n.1461+114_1461+116del
XM_017018831.2:c.981+114_981+116del	XP_016874320.1:n.981+114_981+116del
NM_001844.5:c.1527+114_1527+116del MANE Select	NP_001835.3:n.1527+114_1527+116del
NM_033150.3:c.1320+114_1320+116del	NP_149162.2:n.1320+114_1320+116del