Canonical Allele Identifier: CA363617924

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132738T>G (hg19) ; chr6:g.33164961T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164961T>G , CM000668.2:g.33164961T>G	GRCh38
NC_000006.11:g.33132738T>G , CM000668.1:g.33132738T>G	GRCh37
NC_000006.10:g.33240716T>G	NCBI36
NG_011589.1:g.32508A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.560A>C
ENST00000341947.7:c.4754A>C MANE Select	ENSP00000339915.2:p.Glu1585Ala
ENST00000341947.6:c.4754A>C	ENSP00000339915.2:p.Glu1585Ala
ENST00000361917.5:c.4433A>C	ENSP00000355123.1:p.Glu1478Ala
ENST00000374708.8:c.4496A>C	ENSP00000363840.4:p.Glu1499Ala
ENST00000477772.1:n.544A>C
NM_080679.2:c.4433A>C	NP_542410.2:p.Glu1478Ala
NM_080680.2:c.4754A>C	NP_542411.2:p.Glu1585Ala
NM_080681.2:c.4496A>C	NP_542412.2:p.Glu1499Ala
XM_011514298.1:c.3908A>C	XP_011512600.1:p.Glu1303Ala
XM_011514299.1:c.4040A>C	XP_011512601.1:p.Glu1347Ala
XM_011514300.1:c.3860A>C	XP_011512602.1:p.Glu1287Ala
XM_011514301.1:c.3797A>C	XP_011512603.1:p.Glu1266Ala
XM_011514302.1:c.3641A>C	XP_011512604.1:p.Glu1214Ala
XM_011514299.2:c.4040A>C	XP_011512601.1:p.Glu1347Ala
XM_011514300.2:c.3860A>C	XP_011512602.1:p.Glu1287Ala
XM_011514302.2:c.3641A>C	XP_011512604.1:p.Glu1214Ala
XM_017010250.1:c.4754A>C	XP_016865739.1:p.Glu1585Ala
XM_017010251.2:c.3572A>C	XP_016865740.1:p.Glu1191Ala
NM_080680.3:c.4754A>C MANE Select	NP_542411.2:p.Glu1585Ala
NM_080681.3:c.4496A>C	NP_542412.2:p.Glu1499Ala
NM_080679.3:c.4433A>C	NP_542410.2:p.Glu1478Ala