Canonical Allele Identifier: CA363616320

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132169G>T (hg19) ; chr6:g.33164392G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164392G>T , CM000668.2:g.33164392G>T	GRCh38
NC_000006.11:g.33132169G>T , CM000668.1:g.33132169G>T	GRCh37
NC_000006.10:g.33240147G>T	NCBI36
NG_011589.1:g.33077C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.751C>A
ENST00000341947.7:c.4945C>A MANE Select	ENSP00000339915.2:p.Gln1649Lys
ENST00000341947.6:c.4945C>A	ENSP00000339915.2:p.Gln1649Lys
ENST00000361917.5:c.4624C>A	ENSP00000355123.1:p.Gln1542Lys
ENST00000374708.8:c.4687C>A	ENSP00000363840.4:p.Gln1563Lys
ENST00000477772.1:n.735C>A
NM_080679.2:c.4624C>A	NP_542410.2:p.Gln1542Lys
NM_080680.2:c.4945C>A	NP_542411.2:p.Gln1649Lys
NM_080681.2:c.4687C>A	NP_542412.2:p.Gln1563Lys
XM_011514298.1:c.4099C>A	XP_011512600.1:p.Gln1367Lys
XM_011514299.1:c.4231C>A	XP_011512601.1:p.Gln1411Lys
XM_011514300.1:c.4051C>A	XP_011512602.1:p.Gln1351Lys
XM_011514301.1:c.3988C>A	XP_011512603.1:p.Gln1330Lys
XM_011514302.1:c.3832C>A	XP_011512604.1:p.Gln1278Lys
XM_011514299.2:c.4231C>A	XP_011512601.1:p.Gln1411Lys
XM_011514300.2:c.4051C>A	XP_011512602.1:p.Gln1351Lys
XM_011514302.2:c.3832C>A	XP_011512604.1:p.Gln1278Lys
XM_017010250.1:c.4945C>A	XP_016865739.1:p.Gln1649Lys
XM_017010251.2:c.3763C>A	XP_016865740.1:p.Gln1255Lys
NM_080680.3:c.4945C>A MANE Select	NP_542411.2:p.Gln1649Lys
NM_080681.3:c.4687C>A	NP_542412.2:p.Gln1563Lys
NM_080679.3:c.4624C>A	NP_542410.2:p.Gln1542Lys