Canonical Allele Identifier: CA605231647

Gene: COL2A1

Linked Data

• dbSNP Id: rs1565670156
• gnomAD v2: 12-48371144-G-GGCCAGGGGA
• gnomAD v4: 12-47977361-G-GGCCAGGGGA
• MyVariant Identifiers: chr12:g.48371144_48371145insGCCAGGGGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977370_47977378dup , CM000674.2:g.47977370_47977378dup	GRCh38
NC_000012.11:g.48371153_48371161dup , CM000674.1:g.48371153_48371161dup	GRCh37
NC_000012.10:g.46657420_46657428dup	NCBI36
NG_008072.1:g.32133_32141dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3016_3024dup	ENSP00000338213.6:p.Gly1008_Pro1009insSerProGly
ENST00000380518.8:c.3223_3231dup MANE Select	ENSP00000369889.3:p.Gly1077_Pro1078insSerProGly
ENST00000337299.6:c.3016_3024dup	ENSP00000338213.6:p.Gly1008_Pro1009insSerProGly
ENST00000380518.7:c.3223_3231dup	ENSP00000369889.3:p.Gly1077_Pro1078insSerProGly
ENST00000493991.5:n.2309_2317dup
ENST00000546974.1:n.76_84dup
NM_001844.4:c.3223_3231dup	NP_001835.3:p.Gly1077_Pro1078insSerProGly
NM_033150.2:c.3016_3024dup	NP_149162.2:p.Gly1008_Pro1009insSerProGly
XM_006719242.2:c.3367_3375dup	XP_006719305.2:p.Gly1125_Pro1126insSerProGly
XM_011537928.1:c.3367_3375dup	XP_011536230.1:p.Gly1125_Pro1126insSerProGly
XM_011537929.1:c.3367_3375dup	XP_011536231.1:p.Gly1125_Pro1126insSerProGly
XM_011537930.1:c.3367_3375dup	XP_011536232.1:p.Gly1125_Pro1126insSerProGly
XM_011537931.1:c.3367_3375dup	XP_011536233.1:p.Gly1125_Pro1126insSerProGly
XM_011537932.1:c.3367_3375dup	XP_011536234.1:p.Gly1125_Pro1126insSerProGly
XM_011537933.1:c.3367_3375dup	XP_011536235.1:p.Gly1125_Pro1126insSerProGly
XM_011537934.1:c.3364_3372dup	XP_011536236.1:p.Gly1124_Pro1125insSerProGly
XM_011537935.1:c.2311_2319dup	XP_011536237.1:p.Gly773_Pro774insSerProGly
XM_017018828.1:c.3367_3375dup	XP_016874317.1:p.Gly1125_Pro1126insSerProGly
XM_017018829.1:c.3364_3372dup	XP_016874318.1:p.Gly1124_Pro1125insSerProGly
XM_017018830.1:c.3157_3165dup	XP_016874319.1:p.Gly1055_Pro1056insSerProGly
XM_017018831.2:c.2677_2685dup	XP_016874320.1:p.Gly895_Pro896insSerProGly
NM_001844.5:c.3223_3231dup MANE Select	NP_001835.3:p.Gly1077_Pro1078insSerProGly
NM_033150.3:c.3016_3024dup	NP_149162.2:p.Gly1008_Pro1009insSerProGly