Canonical Allele Identifier: CA363617774

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132719G>C (hg19) ; chr6:g.33164942G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164942G>C , CM000668.2:g.33164942G>C	GRCh38
NC_000006.11:g.33132719G>C , CM000668.1:g.33132719G>C	GRCh37
NC_000006.10:g.33240697G>C	NCBI36
NG_011589.1:g.32527C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.579C>G
ENST00000341947.7:c.4773C>G MANE Select	ENSP00000339915.2:p.Asn1591Lys
ENST00000341947.6:c.4773C>G	ENSP00000339915.2:p.Asn1591Lys
ENST00000361917.5:c.4452C>G	ENSP00000355123.1:p.Asn1484Lys
ENST00000374708.8:c.4515C>G	ENSP00000363840.4:p.Asn1505Lys
ENST00000477772.1:n.563C>G
NM_080679.2:c.4452C>G	NP_542410.2:p.Asn1484Lys
NM_080680.2:c.4773C>G	NP_542411.2:p.Asn1591Lys
NM_080681.2:c.4515C>G	NP_542412.2:p.Asn1505Lys
XM_011514298.1:c.3927C>G	XP_011512600.1:p.Asn1309Lys
XM_011514299.1:c.4059C>G	XP_011512601.1:p.Asn1353Lys
XM_011514300.1:c.3879C>G	XP_011512602.1:p.Asn1293Lys
XM_011514301.1:c.3816C>G	XP_011512603.1:p.Asn1272Lys
XM_011514302.1:c.3660C>G	XP_011512604.1:p.Asn1220Lys
XM_011514299.2:c.4059C>G	XP_011512601.1:p.Asn1353Lys
XM_011514300.2:c.3879C>G	XP_011512602.1:p.Asn1293Lys
XM_011514302.2:c.3660C>G	XP_011512604.1:p.Asn1220Lys
XM_017010250.1:c.4773C>G	XP_016865739.1:p.Asn1591Lys
XM_017010251.2:c.3591C>G	XP_016865740.1:p.Asn1197Lys
NM_080680.3:c.4773C>G MANE Select	NP_542411.2:p.Asn1591Lys
NM_080681.3:c.4515C>G	NP_542412.2:p.Asn1505Lys
NM_080679.3:c.4452C>G	NP_542410.2:p.Asn1484Lys