Canonical Allele Identifier: CA363610353

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33154519C>A (hg19) ; chr6:g.33186742C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33186742C>A , CM000668.2:g.33186742C>A	GRCh38
NC_000006.11:g.33154519C>A , CM000668.1:g.33154519C>A	GRCh37
NC_000006.10:g.33262497C>A	NCBI36
NG_011589.1:g.10727G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682718.1:n.500G>T
ENST00000341947.7:c.683G>T MANE Select	ENSP00000339915.2:p.Cys228Phe
ENST00000341947.6:c.683G>T	ENSP00000339915.2:p.Cys228Phe
ENST00000361917.5:c.683G>T	ENSP00000355123.1:p.Cys228Phe
ENST00000374708.8:c.683G>T	ENSP00000363840.4:p.Cys228Phe
ENST00000395194.1:c.683G>T	ENSP00000378620.1:p.Cys228Phe
ENST00000457788.5:c.683G>T	ENSP00000405520.1:p.Cys228Phe
NM_001163771.1:c.683G>T	NP_001157243.1:p.Cys228Phe
NM_080679.2:c.683G>T	NP_542410.2:p.Cys228Phe
NM_080680.2:c.683G>T	NP_542411.2:p.Cys228Phe
NM_080681.2:c.683G>T	NP_542412.2:p.Cys228Phe
XM_011514298.1:c.-164G>T	XP_011512600.1:n.-164G>T
XM_017010250.1:c.683G>T	XP_016865739.1:p.Cys228Phe
NM_001163771.2:c.683G>T	NP_001157243.1:p.Cys228Phe
NM_080680.3:c.683G>T MANE Select	NP_542411.2:p.Cys228Phe
NM_080681.3:c.683G>T	NP_542412.2:p.Cys228Phe
NM_080679.3:c.683G>T	NP_542410.2:p.Cys228Phe