Canonical Allele Identifier: CA127165

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 17384
• ClinVar RCV Id: RCV000018927 ; RCV000144727
• dbSNP Id: rs121912885
• gnomAD v4: 12-47983435-G-A
• MyVariant Identifiers: chr12:g.48377218G>A (hg19) ; chr12:g.47983435G>A (hg38)
• PubMed: PMID:11007540 ; PMID:15671297 ; PMID:20301479

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47983435G>A , CM000674.2:g.47983435G>A	GRCh38
NC_000012.11:g.48377218G>A , CM000674.1:g.48377218G>A	GRCh37
NC_000012.10:g.46663485G>A	NCBI36
NG_008072.1:g.26068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1792C>T	ENSP00000338213.6:p.Leu598Phe
ENST00000380518.8:c.1999C>T MANE Select	ENSP00000369889.3:p.Leu667Phe
ENST00000337299.6:c.1792C>T	ENSP00000338213.6:p.Leu598Phe
ENST00000380518.7:c.1999C>T	ENSP00000369889.3:p.Leu667Phe
ENST00000483376.1:n.177C>T
ENST00000493991.5:n.923C>T
NM_001844.4:c.1999C>T	NP_001835.3:p.Leu667Phe
NM_033150.2:c.1792C>T	NP_149162.2:p.Leu598Phe
XM_006719242.2:c.2143C>T	XP_006719305.2:p.Leu715Phe
XM_011537928.1:c.2143C>T	XP_011536230.1:p.Leu715Phe
XM_011537929.1:c.2143C>T	XP_011536231.1:p.Leu715Phe
XM_011537930.1:c.2143C>T	XP_011536232.1:p.Leu715Phe
XM_011537931.1:c.2143C>T	XP_011536233.1:p.Leu715Phe
XM_011537932.1:c.2143C>T	XP_011536234.1:p.Leu715Phe
XM_011537933.1:c.2143C>T	XP_011536235.1:p.Leu715Phe
XM_011537934.1:c.2140C>T	XP_011536236.1:p.Leu714Phe
XM_011537935.1:c.1087C>T	XP_011536237.1:p.Leu363Phe
XM_017018828.1:c.2143C>T	XP_016874317.1:p.Leu715Phe
XM_017018829.1:c.2140C>T	XP_016874318.1:p.Leu714Phe
XM_017018830.1:c.1933C>T	XP_016874319.1:p.Leu645Phe
XM_017018831.2:c.1453C>T	XP_016874320.1:p.Leu485Phe
NM_001844.5:c.1999C>T MANE Select	NP_001835.3:p.Leu667Phe
NM_033150.3:c.1792C>T	NP_149162.2:p.Leu598Phe