Canonical Allele Identifier: CA2678227449

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33167209-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33167209C>G , CM000668.2:g.33167209C>G	GRCh38
NC_000006.11:g.33134986C>G , CM000668.1:g.33134986C>G	GRCh37
NC_000006.10:g.33242964C>G	NCBI36
NG_011589.1:g.30260G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.143+55G>C
ENST00000341947.7:c.4176+55G>C MANE Select	ENSP00000339915.2:n.4176+55G>C
ENST00000341947.6:c.4176+55G>C	ENSP00000339915.2:n.4176+55G>C
ENST00000361917.5:c.3855+55G>C	ENSP00000355123.1:n.3855+55G>C
ENST00000374708.8:c.3918+55G>C	ENSP00000363840.4:n.3918+55G>C
ENST00000477772.1:n.273-1393G>C
NM_080679.2:c.3855+55G>C	NP_542410.2:n.3855+55G>C
NM_080680.2:c.4176+55G>C	NP_542411.2:n.4176+55G>C
NM_080681.2:c.3918+55G>C	NP_542412.2:n.3918+55G>C
XM_011514298.1:c.3330+55G>C	XP_011512600.1:n.3330+55G>C
XM_011514299.1:c.3462+55G>C	XP_011512601.1:n.3462+55G>C
XM_011514300.1:c.3282+55G>C	XP_011512602.1:n.3282+55G>C
XM_011514301.1:c.3219+55G>C	XP_011512603.1:n.3219+55G>C
XM_011514302.1:c.3063+55G>C	XP_011512604.1:n.3063+55G>C
XM_011514299.2:c.3462+55G>C	XP_011512601.1:n.3462+55G>C
XM_011514300.2:c.3282+55G>C	XP_011512602.1:n.3282+55G>C
XM_011514302.2:c.3063+55G>C	XP_011512604.1:n.3063+55G>C
XM_017010250.1:c.4176+55G>C	XP_016865739.1:n.4176+55G>C
XM_017010251.2:c.2994+55G>C	XP_016865740.1:n.2994+55G>C
NM_080680.3:c.4176+55G>C MANE Select	NP_542411.2:n.4176+55G>C
NM_080681.3:c.3918+55G>C	NP_542412.2:n.3918+55G>C
NM_080679.3:c.3855+55G>C	NP_542410.2:n.3855+55G>C