Canonical Allele Identifier: CA363616488

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132207T>G (hg19) ; chr6:g.33164430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164430T>G , CM000668.2:g.33164430T>G	GRCh38
NC_000006.11:g.33132207T>G , CM000668.1:g.33132207T>G	GRCh37
NC_000006.10:g.33240185T>G	NCBI36
NG_011589.1:g.33039A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.713A>C
ENST00000341947.7:c.4907A>C MANE Select	ENSP00000339915.2:p.Gln1636Pro
ENST00000341947.6:c.4907A>C	ENSP00000339915.2:p.Gln1636Pro
ENST00000361917.5:c.4586A>C	ENSP00000355123.1:p.Gln1529Pro
ENST00000374708.8:c.4649A>C	ENSP00000363840.4:p.Gln1550Pro
ENST00000477772.1:n.697A>C
NM_080679.2:c.4586A>C	NP_542410.2:p.Gln1529Pro
NM_080680.2:c.4907A>C	NP_542411.2:p.Gln1636Pro
NM_080681.2:c.4649A>C	NP_542412.2:p.Gln1550Pro
XM_011514298.1:c.4061A>C	XP_011512600.1:p.Gln1354Pro
XM_011514299.1:c.4193A>C	XP_011512601.1:p.Gln1398Pro
XM_011514300.1:c.4013A>C	XP_011512602.1:p.Gln1338Pro
XM_011514301.1:c.3950A>C	XP_011512603.1:p.Gln1317Pro
XM_011514302.1:c.3794A>C	XP_011512604.1:p.Gln1265Pro
XM_011514299.2:c.4193A>C	XP_011512601.1:p.Gln1398Pro
XM_011514300.2:c.4013A>C	XP_011512602.1:p.Gln1338Pro
XM_011514302.2:c.3794A>C	XP_011512604.1:p.Gln1265Pro
XM_017010250.1:c.4907A>C	XP_016865739.1:p.Gln1636Pro
XM_017010251.2:c.3725A>C	XP_016865740.1:p.Gln1242Pro
NM_080680.3:c.4907A>C MANE Select	NP_542411.2:p.Gln1636Pro
NM_080681.3:c.4649A>C	NP_542412.2:p.Gln1550Pro
NM_080679.3:c.4586A>C	NP_542410.2:p.Gln1529Pro