Canonical Allele Identifier: CA363616107

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132129C>G (hg19) ; chr6:g.33164352C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164352C>G , CM000668.2:g.33164352C>G	GRCh38
NC_000006.11:g.33132129C>G , CM000668.1:g.33132129C>G	GRCh37
NC_000006.10:g.33240107C>G	NCBI36
NG_011589.1:g.33117G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.791G>C
ENST00000341947.7:c.4985G>C MANE Select	ENSP00000339915.2:p.Gly1662Ala
ENST00000341947.6:c.4985G>C	ENSP00000339915.2:p.Gly1662Ala
ENST00000361917.5:c.4664G>C	ENSP00000355123.1:p.Gly1555Ala
ENST00000374708.8:c.4727G>C	ENSP00000363840.4:p.Gly1576Ala
ENST00000477772.1:n.775G>C
NM_080679.2:c.4664G>C	NP_542410.2:p.Gly1555Ala
NM_080680.2:c.4985G>C	NP_542411.2:p.Gly1662Ala
NM_080681.2:c.4727G>C	NP_542412.2:p.Gly1576Ala
XM_011514298.1:c.4139G>C	XP_011512600.1:p.Gly1380Ala
XM_011514299.1:c.4271G>C	XP_011512601.1:p.Gly1424Ala
XM_011514300.1:c.4091G>C	XP_011512602.1:p.Gly1364Ala
XM_011514301.1:c.4028G>C	XP_011512603.1:p.Gly1343Ala
XM_011514302.1:c.3872G>C	XP_011512604.1:p.Gly1291Ala
XM_011514299.2:c.4271G>C	XP_011512601.1:p.Gly1424Ala
XM_011514300.2:c.4091G>C	XP_011512602.1:p.Gly1364Ala
XM_011514302.2:c.3872G>C	XP_011512604.1:p.Gly1291Ala
XM_017010250.1:c.4985G>C	XP_016865739.1:p.Gly1662Ala
XM_017010251.2:c.3803G>C	XP_016865740.1:p.Gly1268Ala
NM_080680.3:c.4985G>C MANE Select	NP_542411.2:p.Gly1662Ala
NM_080681.3:c.4727G>C	NP_542412.2:p.Gly1576Ala
NM_080679.3:c.4664G>C	NP_542410.2:p.Gly1555Ala