Canonical Allele Identifier: CA363634738

Gene: COL11A2

Linked Data

• dbSNP Id: rs1218647645
• gnomAD v2: 6-33138940-G-C
• MyVariant Identifiers: chr6:g.33138940G>C (hg19) ; chr6:g.33171163G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171163G>C , CM000668.2:g.33171163G>C	GRCh38
NC_000006.11:g.33138940G>C , CM000668.1:g.33138940G>C	GRCh37
NC_000006.10:g.33246918G>C	NCBI36
NG_011589.1:g.26306C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3317C>G MANE Select	ENSP00000339915.2:p.Pro1106Arg
ENST00000341947.6:c.3317C>G	ENSP00000339915.2:p.Pro1106Arg
ENST00000361917.5:c.2996C>G	ENSP00000355123.1:p.Pro999Arg
ENST00000374708.8:c.3059C>G	ENSP00000363840.4:p.Pro1020Arg
ENST00000477772.1:n.273-5347C>G
NM_080679.2:c.2996C>G	NP_542410.2:p.Pro999Arg
NM_080680.2:c.3317C>G	NP_542411.2:p.Pro1106Arg
NM_080681.2:c.3059C>G	NP_542412.2:p.Pro1020Arg
XM_011514298.1:c.2471C>G	XP_011512600.1:p.Pro824Arg
XM_011514299.1:c.2603C>G	XP_011512601.1:p.Pro868Arg
XM_011514300.1:c.2423C>G	XP_011512602.1:p.Pro808Arg
XM_011514301.1:c.2360C>G	XP_011512603.1:p.Pro787Arg
XM_011514302.1:c.2204C>G	XP_011512604.1:p.Pro735Arg
XM_011514299.2:c.2603C>G	XP_011512601.1:p.Pro868Arg
XM_011514300.2:c.2423C>G	XP_011512602.1:p.Pro808Arg
XM_011514302.2:c.2204C>G	XP_011512604.1:p.Pro735Arg
XM_017010250.1:c.3317C>G	XP_016865739.1:p.Pro1106Arg
XM_017010251.2:c.2135C>G	XP_016865740.1:p.Pro712Arg
NM_080680.3:c.3317C>G MANE Select	NP_542411.2:p.Pro1106Arg
NM_080681.3:c.3059C>G	NP_542412.2:p.Pro1020Arg
NM_080679.3:c.2996C>G	NP_542410.2:p.Pro999Arg