Canonical Allele Identifier: CA363616125

Gene: COL11A2

Linked Data

• dbSNP Id: rs1434653690
• gnomAD v3: 6-33164355-T-A
• gnomAD v4: 6-33164355-T-A
• MyVariant Identifiers: chr6:g.33132132T>A (hg19) ; chr6:g.33164355T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164355T>A , CM000668.2:g.33164355T>A	GRCh38
NC_000006.11:g.33132132T>A , CM000668.1:g.33132132T>A	GRCh37
NC_000006.10:g.33240110T>A	NCBI36
NG_011589.1:g.33114A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.788A>T
ENST00000341947.7:c.4982A>T MANE Select	ENSP00000339915.2:p.Asp1661Val
ENST00000341947.6:c.4982A>T	ENSP00000339915.2:p.Asp1661Val
ENST00000361917.5:c.4661A>T	ENSP00000355123.1:p.Asp1554Val
ENST00000374708.8:c.4724A>T	ENSP00000363840.4:p.Asp1575Val
ENST00000477772.1:n.772A>T
NM_080679.2:c.4661A>T	NP_542410.2:p.Asp1554Val
NM_080680.2:c.4982A>T	NP_542411.2:p.Asp1661Val
NM_080681.2:c.4724A>T	NP_542412.2:p.Asp1575Val
XM_011514298.1:c.4136A>T	XP_011512600.1:p.Asp1379Val
XM_011514299.1:c.4268A>T	XP_011512601.1:p.Asp1423Val
XM_011514300.1:c.4088A>T	XP_011512602.1:p.Asp1363Val
XM_011514301.1:c.4025A>T	XP_011512603.1:p.Asp1342Val
XM_011514302.1:c.3869A>T	XP_011512604.1:p.Asp1290Val
XM_011514299.2:c.4268A>T	XP_011512601.1:p.Asp1423Val
XM_011514300.2:c.4088A>T	XP_011512602.1:p.Asp1363Val
XM_011514302.2:c.3869A>T	XP_011512604.1:p.Asp1290Val
XM_017010250.1:c.4982A>T	XP_016865739.1:p.Asp1661Val
XM_017010251.2:c.3800A>T	XP_016865740.1:p.Asp1267Val
NM_080680.3:c.4982A>T MANE Select	NP_542411.2:p.Asp1661Val
NM_080681.3:c.4724A>T	NP_542412.2:p.Asp1575Val
NM_080679.3:c.4661A>T	NP_542410.2:p.Asp1554Val