Canonical Allele Identifier: CA363617476

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164881-A-G
• COSMIC: COSM4752380
• MyVariant Identifiers: chr6:g.33132658A>G (hg19) ; chr6:g.33164881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164881A>G , CM000668.2:g.33164881A>G	GRCh38
NC_000006.11:g.33132658A>G , CM000668.1:g.33132658A>G	GRCh37
NC_000006.10:g.33240636A>G	NCBI36
NG_011589.1:g.32588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.640T>C
ENST00000341947.7:c.4834T>C MANE Select	ENSP00000339915.2:p.Cys1612Arg
ENST00000341947.6:c.4834T>C	ENSP00000339915.2:p.Cys1612Arg
ENST00000361917.5:c.4513T>C	ENSP00000355123.1:p.Cys1505Arg
ENST00000374708.8:c.4576T>C	ENSP00000363840.4:p.Cys1526Arg
ENST00000477772.1:n.624T>C
NM_080679.2:c.4513T>C	NP_542410.2:p.Cys1505Arg
NM_080680.2:c.4834T>C	NP_542411.2:p.Cys1612Arg
NM_080681.2:c.4576T>C	NP_542412.2:p.Cys1526Arg
XM_011514298.1:c.3988T>C	XP_011512600.1:p.Cys1330Arg
XM_011514299.1:c.4120T>C	XP_011512601.1:p.Cys1374Arg
XM_011514300.1:c.3940T>C	XP_011512602.1:p.Cys1314Arg
XM_011514301.1:c.3877T>C	XP_011512603.1:p.Cys1293Arg
XM_011514302.1:c.3721T>C	XP_011512604.1:p.Cys1241Arg
XM_011514299.2:c.4120T>C	XP_011512601.1:p.Cys1374Arg
XM_011514300.2:c.3940T>C	XP_011512602.1:p.Cys1314Arg
XM_011514302.2:c.3721T>C	XP_011512604.1:p.Cys1241Arg
XM_017010250.1:c.4834T>C	XP_016865739.1:p.Cys1612Arg
XM_017010251.2:c.3652T>C	XP_016865740.1:p.Cys1218Arg
NM_080680.3:c.4834T>C MANE Select	NP_542411.2:p.Cys1612Arg
NM_080681.3:c.4576T>C	NP_542412.2:p.Cys1526Arg
NM_080679.3:c.4513T>C	NP_542410.2:p.Cys1505Arg