Canonical Allele Identifier: CA363617468

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164880-C-A
• MyVariant Identifiers: chr6:g.33132657C>A (hg19) ; chr6:g.33164880C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164880C>A , CM000668.2:g.33164880C>A	GRCh38
NC_000006.11:g.33132657C>A , CM000668.1:g.33132657C>A	GRCh37
NC_000006.10:g.33240635C>A	NCBI36
NG_011589.1:g.32589G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.641G>T
ENST00000341947.7:c.4835G>T MANE Select	ENSP00000339915.2:p.Cys1612Phe
ENST00000341947.6:c.4835G>T	ENSP00000339915.2:p.Cys1612Phe
ENST00000361917.5:c.4514G>T	ENSP00000355123.1:p.Cys1505Phe
ENST00000374708.8:c.4577G>T	ENSP00000363840.4:p.Cys1526Phe
ENST00000477772.1:n.625G>T
NM_080679.2:c.4514G>T	NP_542410.2:p.Cys1505Phe
NM_080680.2:c.4835G>T	NP_542411.2:p.Cys1612Phe
NM_080681.2:c.4577G>T	NP_542412.2:p.Cys1526Phe
XM_011514298.1:c.3989G>T	XP_011512600.1:p.Cys1330Phe
XM_011514299.1:c.4121G>T	XP_011512601.1:p.Cys1374Phe
XM_011514300.1:c.3941G>T	XP_011512602.1:p.Cys1314Phe
XM_011514301.1:c.3878G>T	XP_011512603.1:p.Cys1293Phe
XM_011514302.1:c.3722G>T	XP_011512604.1:p.Cys1241Phe
XM_011514299.2:c.4121G>T	XP_011512601.1:p.Cys1374Phe
XM_011514300.2:c.3941G>T	XP_011512602.1:p.Cys1314Phe
XM_011514302.2:c.3722G>T	XP_011512604.1:p.Cys1241Phe
XM_017010250.1:c.4835G>T	XP_016865739.1:p.Cys1612Phe
XM_017010251.2:c.3653G>T	XP_016865740.1:p.Cys1218Phe
NM_080680.3:c.4835G>T MANE Select	NP_542411.2:p.Cys1612Phe
NM_080681.3:c.4577G>T	NP_542412.2:p.Cys1526Phe
NM_080679.3:c.4514G>T	NP_542410.2:p.Cys1505Phe