Canonical Allele Identifier: CA363627147

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33168980C>G , CM000668.2:g.33168980C>G	GRCh38
NC_000006.11:g.33136757C>G , CM000668.1:g.33136757C>G	GRCh37
NC_000006.10:g.33244735C>G	NCBI36
NG_011589.1:g.28489G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.3827G>C MANE Select	NP_542411.2:p.Gly1276Ala
ENST00000341947.7:c.3827G>C MANE Select	ENSP00000339915.2:p.Gly1276Ala
NM_080679.2:c.3506G>C	NP_542410.2:p.Gly1169Ala
NM_080679.3:c.3506G>C	NP_542410.2:p.Gly1169Ala
NM_080680.2:c.3827G>C	NP_542411.2:p.Gly1276Ala
NM_080681.2:c.3569G>C	NP_542412.2:p.Gly1190Ala
NM_080681.3:c.3569G>C	NP_542412.2:p.Gly1190Ala
ENST00000341947.6:c.3827G>C	ENSP00000339915.2:p.Gly1276Ala
ENST00000361917.5:c.3506G>C	ENSP00000355123.1:p.Gly1169Ala
ENST00000374708.8:c.3569G>C	ENSP00000363840.4:p.Gly1190Ala
ENST00000477772.1:n.273-3164G>C
XM_011514298.1:c.2981G>C	XP_011512600.1:p.Gly994Ala
XM_011514299.1:c.3113G>C	XP_011512601.1:p.Gly1038Ala
XM_011514299.2:c.3113G>C	XP_011512601.1:p.Gly1038Ala
XM_011514300.1:c.2933G>C	XP_011512602.1:p.Gly978Ala
XM_011514300.2:c.2933G>C	XP_011512602.1:p.Gly978Ala
XM_011514301.1:c.2870G>C	XP_011512603.1:p.Gly957Ala
XM_011514302.1:c.2714G>C	XP_011512604.1:p.Gly905Ala
XM_011514302.2:c.2714G>C	XP_011512604.1:p.Gly905Ala
XM_017010250.1:c.3827G>C	XP_016865739.1:p.Gly1276Ala
XM_017010251.2:c.2645G>C	XP_016865740.1:p.Gly882Ala