Canonical Allele Identifier: CA363617601

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132685A>C (hg19) ; chr6:g.33164908A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164908A>C , CM000668.2:g.33164908A>C	GRCh38
NC_000006.11:g.33132685A>C , CM000668.1:g.33132685A>C	GRCh37
NC_000006.10:g.33240663A>C	NCBI36
NG_011589.1:g.32561T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.613T>G
ENST00000341947.7:c.4807T>G MANE Select	ENSP00000339915.2:p.Cys1603Gly
ENST00000341947.6:c.4807T>G	ENSP00000339915.2:p.Cys1603Gly
ENST00000361917.5:c.4486T>G	ENSP00000355123.1:p.Cys1496Gly
ENST00000374708.8:c.4549T>G	ENSP00000363840.4:p.Cys1517Gly
ENST00000477772.1:n.597T>G
NM_080679.2:c.4486T>G	NP_542410.2:p.Cys1496Gly
NM_080680.2:c.4807T>G	NP_542411.2:p.Cys1603Gly
NM_080681.2:c.4549T>G	NP_542412.2:p.Cys1517Gly
XM_011514298.1:c.3961T>G	XP_011512600.1:p.Cys1321Gly
XM_011514299.1:c.4093T>G	XP_011512601.1:p.Cys1365Gly
XM_011514300.1:c.3913T>G	XP_011512602.1:p.Cys1305Gly
XM_011514301.1:c.3850T>G	XP_011512603.1:p.Cys1284Gly
XM_011514302.1:c.3694T>G	XP_011512604.1:p.Cys1232Gly
XM_011514299.2:c.4093T>G	XP_011512601.1:p.Cys1365Gly
XM_011514300.2:c.3913T>G	XP_011512602.1:p.Cys1305Gly
XM_011514302.2:c.3694T>G	XP_011512604.1:p.Cys1232Gly
XM_017010250.1:c.4807T>G	XP_016865739.1:p.Cys1603Gly
XM_017010251.2:c.3625T>G	XP_016865740.1:p.Cys1209Gly
NM_080680.3:c.4807T>G MANE Select	NP_542411.2:p.Cys1603Gly
NM_080681.3:c.4549T>G	NP_542412.2:p.Cys1517Gly
NM_080679.3:c.4486T>G	NP_542410.2:p.Cys1496Gly