Canonical Allele Identifier: CA363616421

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132195A>C (hg19) ; chr6:g.33164418A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164418A>C , CM000668.2:g.33164418A>C	GRCh38
NC_000006.11:g.33132195A>C , CM000668.1:g.33132195A>C	GRCh37
NC_000006.10:g.33240173A>C	NCBI36
NG_011589.1:g.33051T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.725T>G
ENST00000341947.7:c.4919T>G MANE Select	ENSP00000339915.2:p.Leu1640Arg
ENST00000341947.6:c.4919T>G	ENSP00000339915.2:p.Leu1640Arg
ENST00000361917.5:c.4598T>G	ENSP00000355123.1:p.Leu1533Arg
ENST00000374708.8:c.4661T>G	ENSP00000363840.4:p.Leu1554Arg
ENST00000477772.1:n.709T>G
NM_080679.2:c.4598T>G	NP_542410.2:p.Leu1533Arg
NM_080680.2:c.4919T>G	NP_542411.2:p.Leu1640Arg
NM_080681.2:c.4661T>G	NP_542412.2:p.Leu1554Arg
XM_011514298.1:c.4073T>G	XP_011512600.1:p.Leu1358Arg
XM_011514299.1:c.4205T>G	XP_011512601.1:p.Leu1402Arg
XM_011514300.1:c.4025T>G	XP_011512602.1:p.Leu1342Arg
XM_011514301.1:c.3962T>G	XP_011512603.1:p.Leu1321Arg
XM_011514302.1:c.3806T>G	XP_011512604.1:p.Leu1269Arg
XM_011514299.2:c.4205T>G	XP_011512601.1:p.Leu1402Arg
XM_011514300.2:c.4025T>G	XP_011512602.1:p.Leu1342Arg
XM_011514302.2:c.3806T>G	XP_011512604.1:p.Leu1269Arg
XM_017010250.1:c.4919T>G	XP_016865739.1:p.Leu1640Arg
XM_017010251.2:c.3737T>G	XP_016865740.1:p.Leu1246Arg
NM_080680.3:c.4919T>G MANE Select	NP_542411.2:p.Leu1640Arg
NM_080681.3:c.4661T>G	NP_542412.2:p.Leu1554Arg
NM_080679.3:c.4598T>G	NP_542410.2:p.Leu1533Arg