Canonical Allele Identifier: CA363609664

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33185757-C-T
• MyVariant Identifiers: chr6:g.33153534C>T (hg19) ; chr6:g.33185757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185757C>T , CM000668.2:g.33185757C>T	GRCh38
NC_000006.11:g.33153534C>T , CM000668.1:g.33153534C>T	GRCh37
NC_000006.10:g.33261512C>T	NCBI36
NG_011589.1:g.11712G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682718.1:n.637G>A
ENST00000341947.7:c.820G>A MANE Select	ENSP00000339915.2:p.Asp274Asn
ENST00000341947.6:c.820G>A	ENSP00000339915.2:p.Asp274Asn
ENST00000361917.5:c.798+870G>A	ENSP00000355123.1:n.798+870G>A
ENST00000374708.8:c.799-703G>A	ENSP00000363840.4:n.799-703G>A
ENST00000457788.5:c.820G>A	ENSP00000405520.1:p.Asp274Asn
NM_080679.2:c.798+870G>A	NP_542410.2:n.798+870G>A
NM_080680.2:c.820G>A	NP_542411.2:p.Asp274Asn
NM_080681.2:c.799-703G>A	NP_542412.2:n.799-703G>A
XM_011514298.1:c.-27G>A	XP_011512600.1:n.-27G>A
XM_017010250.1:c.820G>A	XP_016865739.1:p.Asp274Asn
NM_080680.3:c.820G>A MANE Select	NP_542411.2:p.Asp274Asn
NM_080681.3:c.799-703G>A	NP_542412.2:n.799-703G>A
NM_080679.3:c.798+870G>A	NP_542410.2:n.798+870G>A