Canonical Allele Identifier: CA2678229572

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33169693-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169693A>G , CM000668.2:g.33169693A>G	GRCh38
NC_000006.11:g.33137470A>G , CM000668.1:g.33137470A>G	GRCh37
NC_000006.10:g.33245448A>G	NCBI36
NG_011589.1:g.27776T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3690+138T>C MANE Select	ENSP00000339915.2:n.3690+138T>C
ENST00000341947.6:c.3690+138T>C	ENSP00000339915.2:n.3690+138T>C
ENST00000361917.5:c.3369+138T>C	ENSP00000355123.1:n.3369+138T>C
ENST00000374708.8:c.3432+138T>C	ENSP00000363840.4:n.3432+138T>C
ENST00000477772.1:n.273-3877T>C
NM_080679.2:c.3369+138T>C	NP_542410.2:n.3369+138T>C
NM_080680.2:c.3690+138T>C	NP_542411.2:n.3690+138T>C
NM_080681.2:c.3432+138T>C	NP_542412.2:n.3432+138T>C
XM_011514298.1:c.2844+138T>C	XP_011512600.1:n.2844+138T>C
XM_011514299.1:c.2976+138T>C	XP_011512601.1:n.2976+138T>C
XM_011514300.1:c.2796+138T>C	XP_011512602.1:n.2796+138T>C
XM_011514301.1:c.2733+138T>C	XP_011512603.1:n.2733+138T>C
XM_011514302.1:c.2577+138T>C	XP_011512604.1:n.2577+138T>C
XM_011514299.2:c.2976+138T>C	XP_011512601.1:n.2976+138T>C
XM_011514300.2:c.2796+138T>C	XP_011512602.1:n.2796+138T>C
XM_011514302.2:c.2577+138T>C	XP_011512604.1:n.2577+138T>C
XM_017010250.1:c.3690+138T>C	XP_016865739.1:n.3690+138T>C
XM_017010251.2:c.2508+138T>C	XP_016865740.1:n.2508+138T>C
NM_080680.3:c.3690+138T>C MANE Select	NP_542411.2:n.3690+138T>C
NM_080681.3:c.3432+138T>C	NP_542412.2:n.3432+138T>C
NM_080679.3:c.3369+138T>C	NP_542410.2:n.3369+138T>C