Canonical Allele Identifier: CA363617712

Gene: COL11A2

Linked Data

• dbSNP Id: rs1435203516
• gnomAD v2: 6-33132711-C-T
• gnomAD v4: 6-33164934-C-T
• MyVariant Identifiers: chr6:g.33132711C>T (hg19) ; chr6:g.33164934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164934C>T , CM000668.2:g.33164934C>T	GRCh38
NC_000006.11:g.33132711C>T , CM000668.1:g.33132711C>T	GRCh37
NC_000006.10:g.33240689C>T	NCBI36
NG_011589.1:g.32535G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.587G>A
ENST00000341947.7:c.4781G>A MANE Select	ENSP00000339915.2:p.Cys1594Tyr
ENST00000341947.6:c.4781G>A	ENSP00000339915.2:p.Cys1594Tyr
ENST00000361917.5:c.4460G>A	ENSP00000355123.1:p.Cys1487Tyr
ENST00000374708.8:c.4523G>A	ENSP00000363840.4:p.Cys1508Tyr
ENST00000477772.1:n.571G>A
NM_080679.2:c.4460G>A	NP_542410.2:p.Cys1487Tyr
NM_080680.2:c.4781G>A	NP_542411.2:p.Cys1594Tyr
NM_080681.2:c.4523G>A	NP_542412.2:p.Cys1508Tyr
XM_011514298.1:c.3935G>A	XP_011512600.1:p.Cys1312Tyr
XM_011514299.1:c.4067G>A	XP_011512601.1:p.Cys1356Tyr
XM_011514300.1:c.3887G>A	XP_011512602.1:p.Cys1296Tyr
XM_011514301.1:c.3824G>A	XP_011512603.1:p.Cys1275Tyr
XM_011514302.1:c.3668G>A	XP_011512604.1:p.Cys1223Tyr
XM_011514299.2:c.4067G>A	XP_011512601.1:p.Cys1356Tyr
XM_011514300.2:c.3887G>A	XP_011512602.1:p.Cys1296Tyr
XM_011514302.2:c.3668G>A	XP_011512604.1:p.Cys1223Tyr
XM_017010250.1:c.4781G>A	XP_016865739.1:p.Cys1594Tyr
XM_017010251.2:c.3599G>A	XP_016865740.1:p.Cys1200Tyr
NM_080680.3:c.4781G>A MANE Select	NP_542411.2:p.Cys1594Tyr
NM_080681.3:c.4523G>A	NP_542412.2:p.Cys1508Tyr
NM_080679.3:c.4460G>A	NP_542410.2:p.Cys1487Tyr