Canonical Allele Identifier: CA363610351

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33154518G>C (hg19) ; chr6:g.33186741G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33186741G>C , CM000668.2:g.33186741G>C	GRCh38
NC_000006.11:g.33154518G>C , CM000668.1:g.33154518G>C	GRCh37
NC_000006.10:g.33262496G>C	NCBI36
NG_011589.1:g.10728C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682718.1:n.501C>G
ENST00000341947.7:c.684C>G MANE Select	ENSP00000339915.2:p.Cys228Trp
ENST00000341947.6:c.684C>G	ENSP00000339915.2:p.Cys228Trp
ENST00000361917.5:c.684C>G	ENSP00000355123.1:p.Cys228Trp
ENST00000374708.8:c.684C>G	ENSP00000363840.4:p.Cys228Trp
ENST00000395194.1:c.684C>G	ENSP00000378620.1:p.Cys228Trp
ENST00000457788.5:c.684C>G	ENSP00000405520.1:p.Cys228Trp
NM_001163771.1:c.684C>G	NP_001157243.1:p.Cys228Trp
NM_080679.2:c.684C>G	NP_542410.2:p.Cys228Trp
NM_080680.2:c.684C>G	NP_542411.2:p.Cys228Trp
NM_080681.2:c.684C>G	NP_542412.2:p.Cys228Trp
XM_011514298.1:c.-163C>G	XP_011512600.1:n.-163C>G
XM_017010250.1:c.684C>G	XP_016865739.1:p.Cys228Trp
NM_001163771.2:c.684C>G	NP_001157243.1:p.Cys228Trp
NM_080680.3:c.684C>G MANE Select	NP_542411.2:p.Cys228Trp
NM_080681.3:c.684C>G	NP_542412.2:p.Cys228Trp
NM_080679.3:c.684C>G	NP_542410.2:p.Cys228Trp