Canonical Allele Identifier: CA363617472

Gene: COL11A2

Linked Data

• dbSNP Id: rs1218100070
• gnomAD v2: 6-33132657-C-T
• gnomAD v4: 6-33164880-C-T
• MyVariant Identifiers: chr6:g.33132657C>T (hg19) ; chr6:g.33164880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164880C>T , CM000668.2:g.33164880C>T	GRCh38
NC_000006.11:g.33132657C>T , CM000668.1:g.33132657C>T	GRCh37
NC_000006.10:g.33240635C>T	NCBI36
NG_011589.1:g.32589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.641G>A
ENST00000341947.7:c.4835G>A MANE Select	ENSP00000339915.2:p.Cys1612Tyr
ENST00000341947.6:c.4835G>A	ENSP00000339915.2:p.Cys1612Tyr
ENST00000361917.5:c.4514G>A	ENSP00000355123.1:p.Cys1505Tyr
ENST00000374708.8:c.4577G>A	ENSP00000363840.4:p.Cys1526Tyr
ENST00000477772.1:n.625G>A
NM_080679.2:c.4514G>A	NP_542410.2:p.Cys1505Tyr
NM_080680.2:c.4835G>A	NP_542411.2:p.Cys1612Tyr
NM_080681.2:c.4577G>A	NP_542412.2:p.Cys1526Tyr
XM_011514298.1:c.3989G>A	XP_011512600.1:p.Cys1330Tyr
XM_011514299.1:c.4121G>A	XP_011512601.1:p.Cys1374Tyr
XM_011514300.1:c.3941G>A	XP_011512602.1:p.Cys1314Tyr
XM_011514301.1:c.3878G>A	XP_011512603.1:p.Cys1293Tyr
XM_011514302.1:c.3722G>A	XP_011512604.1:p.Cys1241Tyr
XM_011514299.2:c.4121G>A	XP_011512601.1:p.Cys1374Tyr
XM_011514300.2:c.3941G>A	XP_011512602.1:p.Cys1314Tyr
XM_011514302.2:c.3722G>A	XP_011512604.1:p.Cys1241Tyr
XM_017010250.1:c.4835G>A	XP_016865739.1:p.Cys1612Tyr
XM_017010251.2:c.3653G>A	XP_016865740.1:p.Cys1218Tyr
NM_080680.3:c.4835G>A MANE Select	NP_542411.2:p.Cys1612Tyr
NM_080681.3:c.4577G>A	NP_542412.2:p.Cys1526Tyr
NM_080679.3:c.4514G>A	NP_542410.2:p.Cys1505Tyr