Canonical Allele Identifier: CA3751497

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33184291C>T , CM000668.2:g.33184291C>T	GRCh38
NC_000006.11:g.33152068C>T , CM000668.1:g.33152068C>T	GRCh37
NC_000006.10:g.33260046C>T	NCBI36
NG_011589.1:g.13178G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.973G>A MANE Select	NP_542411.2:p.Asp325Asn
ENST00000341947.7:c.973G>A MANE Select	ENSP00000339915.2:p.Asp325Asn
NM_080679.2:c.798+2336G>A	NP_542410.2:n.798+2336G>A
NM_080679.3:c.798+2336G>A	NP_542410.2:n.798+2336G>A
NM_080680.2:c.973G>A	NP_542411.2:p.Asp325Asn
NM_080681.2:c.861+701G>A	NP_542412.2:n.861+701G>A
NM_080681.3:c.861+701G>A	NP_542412.2:n.861+701G>A
ENST00000341947.6:c.973G>A	ENSP00000339915.2:p.Asp325Asn
ENST00000361917.5:c.798+2336G>A	ENSP00000355123.1:n.798+2336G>A
ENST00000374708.8:c.861+701G>A	ENSP00000363840.4:n.861+701G>A
ENST00000457788.5:c.973G>A	ENSP00000405520.1:p.Asp325Asn
XM_011514298.1:c.127G>A	XP_011512600.1:p.Asp43Asn
XM_011514299.1:c.259G>A	XP_011512601.1:p.Asp87Asn
XM_011514299.2:c.259G>A	XP_011512601.1:p.Asp87Asn
XM_011514300.1:c.225+701G>A	XP_011512602.1:n.225+701G>A
XM_011514300.2:c.225+701G>A	XP_011512602.1:n.225+701G>A
XM_011514301.1:c.162+993G>A	XP_011512603.1:n.162+993G>A
XM_017010250.1:c.973G>A	XP_016865739.1:p.Asp325Asn