Canonical Allele Identifier: CA2986914772

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33178602G>T , CM000668.2:g.33178602G>T	GRCh38
NC_000006.11:g.33146379G>T , CM000668.1:g.33146379G>T	GRCh37
NC_000006.10:g.33254357G>T	NCBI36
NG_011589.1:g.18867C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.1719+77C>A MANE Select	NP_542411.2:n.1719+77C>A
ENST00000341947.7:c.1719+77C>A MANE Select	ENSP00000339915.2:n.1719+77C>A
NM_080679.2:c.1398+77C>A	NP_542410.2:n.1398+77C>A
NM_080679.3:c.1398+77C>A	NP_542410.2:n.1398+77C>A
NM_080680.2:c.1719+77C>A	NP_542411.2:n.1719+77C>A
NM_080681.2:c.1461+77C>A	NP_542412.2:n.1461+77C>A
NM_080681.3:c.1461+77C>A	NP_542412.2:n.1461+77C>A
ENST00000341947.6:c.1719+77C>A	ENSP00000339915.2:n.1719+77C>A
ENST00000361917.5:c.1398+77C>A	ENSP00000355123.1:n.1398+77C>A
ENST00000361917.6:c.346+77C>A
ENST00000374708.8:c.1461+77C>A	ENSP00000363840.4:n.1461+77C>A
ENST00000457788.5:c.1719+77C>A	ENSP00000405520.1:n.1719+77C>A
XM_011514298.1:c.873+77C>A	XP_011512600.1:n.873+77C>A
XM_011514299.1:c.1005+77C>A	XP_011512601.1:n.1005+77C>A
XM_011514299.2:c.1005+77C>A	XP_011512601.1:n.1005+77C>A
XM_011514300.1:c.825+77C>A	XP_011512602.1:n.825+77C>A
XM_011514300.2:c.825+77C>A	XP_011512602.1:n.825+77C>A
XM_011514301.1:c.762+77C>A	XP_011512603.1:n.762+77C>A
XM_011514302.1:c.606+77C>A	XP_011512604.1:n.606+77C>A
XM_011514302.2:c.606+77C>A	XP_011512604.1:n.606+77C>A
XM_017010250.1:c.1719+77C>A	XP_016865739.1:n.1719+77C>A
XM_017010251.2:c.537+77C>A	XP_016865740.1:n.537+77C>A