Canonical Allele Identifier: CA1087648554

Gene: COL11A2

Linked Data

• dbSNP Id: rs1737714231
• gnomAD v3: 6-33167231-C-T
• gnomAD v4: 6-33167231-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33167231C>T , CM000668.2:g.33167231C>T	GRCh38
NC_000006.11:g.33135008C>T , CM000668.1:g.33135008C>T	GRCh37
NC_000006.10:g.33242986C>T	NCBI36
NG_011589.1:g.30238G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.143+33G>A
ENST00000341947.7:c.4176+33G>A MANE Select	ENSP00000339915.2:n.4176+33G>A
ENST00000341947.6:c.4176+33G>A	ENSP00000339915.2:n.4176+33G>A
ENST00000361917.5:c.3855+33G>A	ENSP00000355123.1:n.3855+33G>A
ENST00000374708.8:c.3918+33G>A	ENSP00000363840.4:n.3918+33G>A
ENST00000477772.1:n.273-1415G>A
NM_080679.2:c.3855+33G>A	NP_542410.2:n.3855+33G>A
NM_080680.2:c.4176+33G>A	NP_542411.2:n.4176+33G>A
NM_080681.2:c.3918+33G>A	NP_542412.2:n.3918+33G>A
XM_011514298.1:c.3330+33G>A	XP_011512600.1:n.3330+33G>A
XM_011514299.1:c.3462+33G>A	XP_011512601.1:n.3462+33G>A
XM_011514300.1:c.3282+33G>A	XP_011512602.1:n.3282+33G>A
XM_011514301.1:c.3219+33G>A	XP_011512603.1:n.3219+33G>A
XM_011514302.1:c.3063+33G>A	XP_011512604.1:n.3063+33G>A
XM_011514299.2:c.3462+33G>A	XP_011512601.1:n.3462+33G>A
XM_011514300.2:c.3282+33G>A	XP_011512602.1:n.3282+33G>A
XM_011514302.2:c.3063+33G>A	XP_011512604.1:n.3063+33G>A
XM_017010250.1:c.4176+33G>A	XP_016865739.1:n.4176+33G>A
XM_017010251.2:c.2994+33G>A	XP_016865740.1:n.2994+33G>A
NM_080680.3:c.4176+33G>A MANE Select	NP_542411.2:n.4176+33G>A
NM_080681.3:c.3918+33G>A	NP_542412.2:n.3918+33G>A
NM_080679.3:c.3855+33G>A	NP_542410.2:n.3855+33G>A