Canonical Allele Identifier: CA3749940

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 906636
• ClinVar RCV Id: RCV001155961 ; RCV001155959 ; RCV001155960 ; RCV002070919
• dbSNP Id: rs528251146
• ExAC: 6:33132131 G / A
• gnomAD v2: 6-33132131-G-A
• gnomAD v3: 6-33164354-G-A
• gnomAD v4: 6-33164354-G-A
• COSMIC: COSM3349286
• MyVariant Identifiers: chr6:g.33132131G>A (hg19) ; chr6:g.33164354G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164354G>A , CM000668.2:g.33164354G>A	GRCh38
NC_000006.11:g.33132131G>A , CM000668.1:g.33132131G>A	GRCh37
NC_000006.10:g.33240109G>A	NCBI36
NG_011589.1:g.33115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.789C>T
ENST00000341947.7:c.4983C>T MANE Select	ENSP00000339915.2:p.Asp1661=
ENST00000341947.6:c.4983C>T	ENSP00000339915.2:p.Asp1661=
ENST00000361917.5:c.4662C>T	ENSP00000355123.1:p.Asp1554=
ENST00000374708.8:c.4725C>T	ENSP00000363840.4:p.Asp1575=
ENST00000477772.1:n.773C>T
NM_080679.2:c.4662C>T	NP_542410.2:p.Asp1554=
NM_080680.2:c.4983C>T	NP_542411.2:p.Asp1661=
NM_080681.2:c.4725C>T	NP_542412.2:p.Asp1575=
XM_011514298.1:c.4137C>T	XP_011512600.1:p.Asp1379=
XM_011514299.1:c.4269C>T	XP_011512601.1:p.Asp1423=
XM_011514300.1:c.4089C>T	XP_011512602.1:p.Asp1363=
XM_011514301.1:c.4026C>T	XP_011512603.1:p.Asp1342=
XM_011514302.1:c.3870C>T	XP_011512604.1:p.Asp1290=
XM_011514299.2:c.4269C>T	XP_011512601.1:p.Asp1423=
XM_011514300.2:c.4089C>T	XP_011512602.1:p.Asp1363=
XM_011514302.2:c.3870C>T	XP_011512604.1:p.Asp1290=
XM_017010250.1:c.4983C>T	XP_016865739.1:p.Asp1661=
XM_017010251.2:c.3801C>T	XP_016865740.1:p.Asp1267=
NM_080680.3:c.4983C>T MANE Select	NP_542411.2:p.Asp1661=
NM_080681.3:c.4725C>T	NP_542412.2:p.Asp1575=
NM_080679.3:c.4662C>T	NP_542410.2:p.Asp1554=