Canonical Allele Identifier: CA384545422

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47981785-A-C
• MyVariant Identifiers: chr12:g.48375568A>C (hg19) ; chr12:g.47981785A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981785A>C , CM000674.2:g.47981785A>C	GRCh38
NC_000012.11:g.48375568A>C , CM000674.1:g.48375568A>C	GRCh37
NC_000012.10:g.46661835A>C	NCBI36
NG_008072.1:g.27718T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2193T>G	ENSP00000338213.6:p.Asn731Lys
ENST00000380518.8:c.2400T>G MANE Select	ENSP00000369889.3:p.Asn800Lys
ENST00000337299.6:c.2193T>G	ENSP00000338213.6:p.Asn731Lys
ENST00000380518.7:c.2400T>G	ENSP00000369889.3:p.Asn800Lys
ENST00000483376.1:n.578T>G
ENST00000493991.5:n.1486T>G
NM_001844.4:c.2400T>G	NP_001835.3:p.Asn800Lys
NM_033150.2:c.2193T>G	NP_149162.2:p.Asn731Lys
XM_006719242.2:c.2544T>G	XP_006719305.2:p.Asn848Lys
XM_011537928.1:c.2544T>G	XP_011536230.1:p.Asn848Lys
XM_011537929.1:c.2544T>G	XP_011536231.1:p.Asn848Lys
XM_011537930.1:c.2544T>G	XP_011536232.1:p.Asn848Lys
XM_011537931.1:c.2544T>G	XP_011536233.1:p.Asn848Lys
XM_011537932.1:c.2544T>G	XP_011536234.1:p.Asn848Lys
XM_011537933.1:c.2544T>G	XP_011536235.1:p.Asn848Lys
XM_011537934.1:c.2541T>G	XP_011536236.1:p.Asn847Lys
XM_011537935.1:c.1488T>G	XP_011536237.1:p.Asn496Lys
XR_944910.1:n.208+359A>C
XM_017018828.1:c.2544T>G	XP_016874317.1:p.Asn848Lys
XM_017018829.1:c.2541T>G	XP_016874318.1:p.Asn847Lys
XM_017018830.1:c.2334T>G	XP_016874319.1:p.Asn778Lys
XM_017018831.2:c.1854T>G	XP_016874320.1:p.Asn618Lys
NM_001844.5:c.2400T>G MANE Select	NP_001835.3:p.Asn800Lys
NM_033150.3:c.2193T>G	NP_149162.2:p.Asn731Lys