Canonical Allele Identifier: CA363617422

Gene: COL11A2

Linked Data

• dbSNP Id: rs1768879521
• gnomAD v4: 6-33164866-C-A
• MyVariant Identifiers: chr6:g.33132643C>A (hg19) ; chr6:g.33164866C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164866C>A , CM000668.2:g.33164866C>A	GRCh38
NC_000006.11:g.33132643C>A , CM000668.1:g.33132643C>A	GRCh37
NC_000006.10:g.33240621C>A	NCBI36
NG_011589.1:g.32603G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.655G>T
ENST00000341947.7:c.4849G>T MANE Select	ENSP00000339915.2:p.Asp1617Tyr
ENST00000341947.6:c.4849G>T	ENSP00000339915.2:p.Asp1617Tyr
ENST00000361917.5:c.4528G>T	ENSP00000355123.1:p.Asp1510Tyr
ENST00000374708.8:c.4591G>T	ENSP00000363840.4:p.Asp1531Tyr
ENST00000477772.1:n.639G>T
NM_080679.2:c.4528G>T	NP_542410.2:p.Asp1510Tyr
NM_080680.2:c.4849G>T	NP_542411.2:p.Asp1617Tyr
NM_080681.2:c.4591G>T	NP_542412.2:p.Asp1531Tyr
XM_011514298.1:c.4003G>T	XP_011512600.1:p.Asp1335Tyr
XM_011514299.1:c.4135G>T	XP_011512601.1:p.Asp1379Tyr
XM_011514300.1:c.3955G>T	XP_011512602.1:p.Asp1319Tyr
XM_011514301.1:c.3892G>T	XP_011512603.1:p.Asp1298Tyr
XM_011514302.1:c.3736G>T	XP_011512604.1:p.Asp1246Tyr
XM_011514299.2:c.4135G>T	XP_011512601.1:p.Asp1379Tyr
XM_011514300.2:c.3955G>T	XP_011512602.1:p.Asp1319Tyr
XM_011514302.2:c.3736G>T	XP_011512604.1:p.Asp1246Tyr
XM_017010250.1:c.4849G>T	XP_016865739.1:p.Asp1617Tyr
XM_017010251.2:c.3667G>T	XP_016865740.1:p.Asp1223Tyr
NM_080680.3:c.4849G>T MANE Select	NP_542411.2:p.Asp1617Tyr
NM_080681.3:c.4591G>T	NP_542412.2:p.Asp1531Tyr
NM_080679.3:c.4528G>T	NP_542410.2:p.Asp1510Tyr