Canonical Allele Identifier: CA3750554

Gene: COL11A2

Linked Data

• dbSNP Id: rs761687232
• ExAC: 6:33138932 G / C
• gnomAD v2: 6-33138932-G-C
• gnomAD v3: 6-33171155-G-C
• gnomAD v4: 6-33171155-G-C
• MyVariant Identifiers: chr6:g.33138932G>C (hg19) ; chr6:g.33171155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171155G>C , CM000668.2:g.33171155G>C	GRCh38
NC_000006.11:g.33138932G>C , CM000668.1:g.33138932G>C	GRCh37
NC_000006.10:g.33246910G>C	NCBI36
NG_011589.1:g.26314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3325C>G MANE Select	ENSP00000339915.2:p.Pro1109Ala
ENST00000341947.6:c.3325C>G	ENSP00000339915.2:p.Pro1109Ala
ENST00000361917.5:c.3004C>G	ENSP00000355123.1:p.Pro1002Ala
ENST00000374708.8:c.3067C>G	ENSP00000363840.4:p.Pro1023Ala
ENST00000477772.1:n.273-5339C>G
NM_080679.2:c.3004C>G	NP_542410.2:p.Pro1002Ala
NM_080680.2:c.3325C>G	NP_542411.2:p.Pro1109Ala
NM_080681.2:c.3067C>G	NP_542412.2:p.Pro1023Ala
XM_011514298.1:c.2479C>G	XP_011512600.1:p.Pro827Ala
XM_011514299.1:c.2611C>G	XP_011512601.1:p.Pro871Ala
XM_011514300.1:c.2431C>G	XP_011512602.1:p.Pro811Ala
XM_011514301.1:c.2368C>G	XP_011512603.1:p.Pro790Ala
XM_011514302.1:c.2212C>G	XP_011512604.1:p.Pro738Ala
XM_011514299.2:c.2611C>G	XP_011512601.1:p.Pro871Ala
XM_011514300.2:c.2431C>G	XP_011512602.1:p.Pro811Ala
XM_011514302.2:c.2212C>G	XP_011512604.1:p.Pro738Ala
XM_017010250.1:c.3325C>G	XP_016865739.1:p.Pro1109Ala
XM_017010251.2:c.2143C>G	XP_016865740.1:p.Pro715Ala
NM_080680.3:c.3325C>G MANE Select	NP_542411.2:p.Pro1109Ala
NM_080681.3:c.3067C>G	NP_542412.2:p.Pro1023Ala
NM_080679.3:c.3004C>G	NP_542410.2:p.Pro1002Ala