Canonical Allele Identifier: CA3751247

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33178684G>T , CM000668.2:g.33178684G>T	GRCh38
NC_000006.11:g.33146461G>T , CM000668.1:g.33146461G>T	GRCh37
NC_000006.10:g.33254439G>T	NCBI36
NG_011589.1:g.18785C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.1714C>A MANE Select	NP_542411.2:p.His572Asn
ENST00000341947.7:c.1714C>A MANE Select	ENSP00000339915.2:p.His572Asn
NM_080679.2:c.1393C>A	NP_542410.2:p.His465Asn
NM_080679.3:c.1393C>A	NP_542410.2:p.His465Asn
NM_080680.2:c.1714C>A	NP_542411.2:p.His572Asn
NM_080681.2:c.1456C>A	NP_542412.2:p.His486Asn
NM_080681.3:c.1456C>A	NP_542412.2:p.His486Asn
ENST00000341947.6:c.1714C>A	ENSP00000339915.2:p.His572Asn
ENST00000361917.5:c.1393C>A	ENSP00000355123.1:p.His465Asn
ENST00000361917.6:c.341C>A
ENST00000374708.8:c.1456C>A	ENSP00000363840.4:p.His486Asn
ENST00000457788.5:c.1714C>A	ENSP00000405520.1:p.His572Asn
XM_011514298.1:c.868C>A	XP_011512600.1:p.His290Asn
XM_011514299.1:c.1000C>A	XP_011512601.1:p.His334Asn
XM_011514299.2:c.1000C>A	XP_011512601.1:p.His334Asn
XM_011514300.1:c.820C>A	XP_011512602.1:p.His274Asn
XM_011514300.2:c.820C>A	XP_011512602.1:p.His274Asn
XM_011514301.1:c.757C>A	XP_011512603.1:p.His253Asn
XM_011514302.1:c.601C>A	XP_011512604.1:p.His201Asn
XM_011514302.2:c.601C>A	XP_011512604.1:p.His201Asn
XM_017010250.1:c.1714C>A	XP_016865739.1:p.His572Asn
XM_017010251.2:c.532C>A	XP_016865740.1:p.His178Asn