Canonical Allele Identifier: CA3749943

Gene: COL11A2

Linked Data

• dbSNP Id: rs767920859
• ExAC: 6:33132149 G / C
• gnomAD v2: 6-33132149-G-C
• gnomAD v4: 6-33164372-G-C
• MyVariant Identifiers: chr6:g.33132149G>C (hg19) ; chr6:g.33164372G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164372G>C , CM000668.2:g.33164372G>C	GRCh38
NC_000006.11:g.33132149G>C , CM000668.1:g.33132149G>C	GRCh37
NC_000006.10:g.33240127G>C	NCBI36
NG_011589.1:g.33097C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.771C>G
ENST00000341947.7:c.4965C>G MANE Select	ENSP00000339915.2:p.Cys1655Trp
ENST00000341947.6:c.4965C>G	ENSP00000339915.2:p.Cys1655Trp
ENST00000361917.5:c.4644C>G	ENSP00000355123.1:p.Cys1548Trp
ENST00000374708.8:c.4707C>G	ENSP00000363840.4:p.Cys1569Trp
ENST00000477772.1:n.755C>G
NM_080679.2:c.4644C>G	NP_542410.2:p.Cys1548Trp
NM_080680.2:c.4965C>G	NP_542411.2:p.Cys1655Trp
NM_080681.2:c.4707C>G	NP_542412.2:p.Cys1569Trp
XM_011514298.1:c.4119C>G	XP_011512600.1:p.Cys1373Trp
XM_011514299.1:c.4251C>G	XP_011512601.1:p.Cys1417Trp
XM_011514300.1:c.4071C>G	XP_011512602.1:p.Cys1357Trp
XM_011514301.1:c.4008C>G	XP_011512603.1:p.Cys1336Trp
XM_011514302.1:c.3852C>G	XP_011512604.1:p.Cys1284Trp
XM_011514299.2:c.4251C>G	XP_011512601.1:p.Cys1417Trp
XM_011514300.2:c.4071C>G	XP_011512602.1:p.Cys1357Trp
XM_011514302.2:c.3852C>G	XP_011512604.1:p.Cys1284Trp
XM_017010250.1:c.4965C>G	XP_016865739.1:p.Cys1655Trp
XM_017010251.2:c.3783C>G	XP_016865740.1:p.Cys1261Trp
NM_080680.3:c.4965C>G MANE Select	NP_542411.2:p.Cys1655Trp
NM_080681.3:c.4707C>G	NP_542412.2:p.Cys1569Trp
NM_080679.3:c.4644C>G	NP_542410.2:p.Cys1548Trp