Canonical Allele Identifier: CA363634733

Gene: COL11A2

Linked Data

• dbSNP Id: rs1218647645
• gnomAD v2: 6-33138940-G-A
• gnomAD v4: 6-33171163-G-A
• MyVariant Identifiers: chr6:g.33138940G>A (hg19) ; chr6:g.33171163G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3317C>T MANE Select	ENSP00000339915.2:p.Pro1106Leu
ENST00000341947.6:c.3317C>T	ENSP00000339915.2:p.Pro1106Leu
ENST00000361917.5:c.2996C>T	ENSP00000355123.1:p.Pro999Leu
ENST00000374708.8:c.3059C>T	ENSP00000363840.4:p.Pro1020Leu
ENST00000477772.1:n.273-5347C>T
NM_080679.2:c.2996C>T	NP_542410.2:p.Pro999Leu
NM_080680.2:c.3317C>T	NP_542411.2:p.Pro1106Leu
NM_080681.2:c.3059C>T	NP_542412.2:p.Pro1020Leu
XM_011514298.1:c.2471C>T	XP_011512600.1:p.Pro824Leu
XM_011514299.1:c.2603C>T	XP_011512601.1:p.Pro868Leu
XM_011514300.1:c.2423C>T	XP_011512602.1:p.Pro808Leu
XM_011514301.1:c.2360C>T	XP_011512603.1:p.Pro787Leu
XM_011514302.1:c.2204C>T	XP_011512604.1:p.Pro735Leu
XM_011514299.2:c.2603C>T	XP_011512601.1:p.Pro868Leu
XM_011514300.2:c.2423C>T	XP_011512602.1:p.Pro808Leu
XM_011514302.2:c.2204C>T	XP_011512604.1:p.Pro735Leu
XM_017010250.1:c.3317C>T	XP_016865739.1:p.Pro1106Leu
XM_017010251.2:c.2135C>T	XP_016865740.1:p.Pro712Leu
NM_080680.3:c.3317C>T MANE Select	NP_542411.2:p.Pro1106Leu
NM_080681.3:c.3059C>T	NP_542412.2:p.Pro1020Leu
NM_080679.3:c.2996C>T	NP_542410.2:p.Pro999Leu