Canonical Allele Identifier: CA2678232852

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33172397T>G , CM000668.2:g.33172397T>G	GRCh38
NC_000006.11:g.33140174T>G , CM000668.1:g.33140174T>G	GRCh37
NC_000006.10:g.33248152T>G	NCBI36
NG_011589.1:g.25072A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.2899-19A>C MANE Select	NP_542411.2:n.2899-19A>C
ENST00000341947.7:c.2899-19A>C MANE Select	ENSP00000339915.2:n.2899-19A>C
NM_080679.2:c.2578-19A>C	NP_542410.2:n.2578-19A>C
NM_080679.3:c.2578-19A>C	NP_542410.2:n.2578-19A>C
NM_080680.2:c.2899-19A>C	NP_542411.2:n.2899-19A>C
NM_080681.2:c.2641-19A>C	NP_542412.2:n.2641-19A>C
NM_080681.3:c.2641-19A>C	NP_542412.2:n.2641-19A>C
ENST00000341947.6:c.2899-19A>C	ENSP00000339915.2:n.2899-19A>C
ENST00000361917.5:c.2578-19A>C	ENSP00000355123.1:n.2578-19A>C
ENST00000374708.8:c.2641-19A>C	ENSP00000363840.4:n.2641-19A>C
ENST00000477772.1:n.272+4612A>C
XM_011514298.1:c.2053-19A>C	XP_011512600.1:n.2053-19A>C
XM_011514299.1:c.2185-19A>C	XP_011512601.1:n.2185-19A>C
XM_011514299.2:c.2185-19A>C	XP_011512601.1:n.2185-19A>C
XM_011514300.1:c.2005-19A>C	XP_011512602.1:n.2005-19A>C
XM_011514300.2:c.2005-19A>C	XP_011512602.1:n.2005-19A>C
XM_011514301.1:c.1942-19A>C	XP_011512603.1:n.1942-19A>C
XM_011514302.1:c.1786-19A>C	XP_011512604.1:n.1786-19A>C
XM_011514302.2:c.1786-19A>C	XP_011512604.1:n.1786-19A>C
XM_017010250.1:c.2899-19A>C	XP_016865739.1:n.2899-19A>C
XM_017010251.2:c.1717-19A>C	XP_016865740.1:n.1717-19A>C