Canonical Allele Identifier: CA2841572214

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164804G>T , CM000668.2:g.33164804G>T	GRCh38
NC_000006.11:g.33132581G>T , CM000668.1:g.33132581G>T	GRCh37
NC_000006.10:g.33240559G>T	NCBI36
NG_011589.1:g.32665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.669+48C>A
ENST00000341947.7:c.4863+48C>A MANE Select	ENSP00000339915.2:n.4863+48C>A
ENST00000341947.6:c.4863+48C>A	ENSP00000339915.2:n.4863+48C>A
ENST00000361917.5:c.4542+48C>A	ENSP00000355123.1:n.4542+48C>A
ENST00000374708.8:c.4605+48C>A	ENSP00000363840.4:n.4605+48C>A
ENST00000477772.1:n.653+48C>A
NM_080679.2:c.4542+48C>A	NP_542410.2:n.4542+48C>A
NM_080680.2:c.4863+48C>A	NP_542411.2:n.4863+48C>A
NM_080681.2:c.4605+48C>A	NP_542412.2:n.4605+48C>A
XM_011514298.1:c.4017+48C>A	XP_011512600.1:n.4017+48C>A
XM_011514299.1:c.4149+48C>A	XP_011512601.1:n.4149+48C>A
XM_011514300.1:c.3969+48C>A	XP_011512602.1:n.3969+48C>A
XM_011514301.1:c.3906+48C>A	XP_011512603.1:n.3906+48C>A
XM_011514302.1:c.3750+48C>A	XP_011512604.1:n.3750+48C>A
XM_011514299.2:c.4149+48C>A	XP_011512601.1:n.4149+48C>A
XM_011514300.2:c.3969+48C>A	XP_011512602.1:n.3969+48C>A
XM_011514302.2:c.3750+48C>A	XP_011512604.1:n.3750+48C>A
XM_017010250.1:c.4863+48C>A	XP_016865739.1:n.4863+48C>A
XM_017010251.2:c.3681+48C>A	XP_016865740.1:n.3681+48C>A
NM_080680.3:c.4863+48C>A MANE Select	NP_542411.2:n.4863+48C>A
NM_080681.3:c.4605+48C>A	NP_542412.2:n.4605+48C>A
NM_080679.3:c.4542+48C>A	NP_542410.2:n.4542+48C>A