Canonical Allele Identifier: CA566428946

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174222G>A , CM000668.2:g.33174222G>A	GRCh38
NC_000006.11:g.33141999G>A , CM000668.1:g.33141999G>A	GRCh37
NC_000006.10:g.33249977G>A	NCBI36
NG_011589.1:g.23247C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.2431-4C>T MANE Select	NP_542411.2:n.2431-4C>T
ENST00000341947.7:c.2431-4C>T MANE Select	ENSP00000339915.2:n.2431-4C>T
NM_080679.2:c.2110-4C>T	NP_542410.2:n.2110-4C>T
NM_080679.3:c.2110-4C>T	NP_542410.2:n.2110-4C>T
NM_080680.2:c.2431-4C>T	NP_542411.2:n.2431-4C>T
NM_080681.2:c.2173-4C>T	NP_542412.2:n.2173-4C>T
NM_080681.3:c.2173-4C>T	NP_542412.2:n.2173-4C>T
ENST00000341947.6:c.2431-4C>T	ENSP00000339915.2:n.2431-4C>T
ENST00000361917.5:c.2110-4C>T	ENSP00000355123.1:n.2110-4C>T
ENST00000361917.6:c.1004-4C>T
ENST00000374708.8:c.2173-4C>T	ENSP00000363840.4:n.2173-4C>T
ENST00000477772.1:n.272+2787C>T
XM_011514298.1:c.1585-4C>T	XP_011512600.1:n.1585-4C>T
XM_011514299.1:c.1717-4C>T	XP_011512601.1:n.1717-4C>T
XM_011514299.2:c.1717-4C>T	XP_011512601.1:n.1717-4C>T
XM_011514300.1:c.1537-4C>T	XP_011512602.1:n.1537-4C>T
XM_011514300.2:c.1537-4C>T	XP_011512602.1:n.1537-4C>T
XM_011514301.1:c.1474-4C>T	XP_011512603.1:n.1474-4C>T
XM_011514302.1:c.1318-4C>T	XP_011512604.1:n.1318-4C>T
XM_011514302.2:c.1318-4C>T	XP_011512604.1:n.1318-4C>T
XM_017010250.1:c.2431-4C>T	XP_016865739.1:n.2431-4C>T
XM_017010251.2:c.1249-4C>T	XP_016865740.1:n.1249-4C>T