Canonical Allele Identifier: CA363616360

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2793131
• ClinVar RCV Id: RCV003667670
• dbSNP Id: rs1768777271
• gnomAD v4: 6-33164403-A-G
• MyVariant Identifiers: chr6:g.33132180A>G (hg19) ; chr6:g.33164403A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164403A>G , CM000668.2:g.33164403A>G	GRCh38
NC_000006.11:g.33132180A>G , CM000668.1:g.33132180A>G	GRCh37
NC_000006.10:g.33240158A>G	NCBI36
NG_011589.1:g.33066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.740T>C
ENST00000341947.7:c.4934T>C MANE Select	ENSP00000339915.2:p.Val1645Ala
ENST00000341947.6:c.4934T>C	ENSP00000339915.2:p.Val1645Ala
ENST00000361917.5:c.4613T>C	ENSP00000355123.1:p.Val1538Ala
ENST00000374708.8:c.4676T>C	ENSP00000363840.4:p.Val1559Ala
ENST00000477772.1:n.724T>C
NM_080679.2:c.4613T>C	NP_542410.2:p.Val1538Ala
NM_080680.2:c.4934T>C	NP_542411.2:p.Val1645Ala
NM_080681.2:c.4676T>C	NP_542412.2:p.Val1559Ala
XM_011514298.1:c.4088T>C	XP_011512600.1:p.Val1363Ala
XM_011514299.1:c.4220T>C	XP_011512601.1:p.Val1407Ala
XM_011514300.1:c.4040T>C	XP_011512602.1:p.Val1347Ala
XM_011514301.1:c.3977T>C	XP_011512603.1:p.Val1326Ala
XM_011514302.1:c.3821T>C	XP_011512604.1:p.Val1274Ala
XM_011514299.2:c.4220T>C	XP_011512601.1:p.Val1407Ala
XM_011514300.2:c.4040T>C	XP_011512602.1:p.Val1347Ala
XM_011514302.2:c.3821T>C	XP_011512604.1:p.Val1274Ala
XM_017010250.1:c.4934T>C	XP_016865739.1:p.Val1645Ala
XM_017010251.2:c.3752T>C	XP_016865740.1:p.Val1251Ala
NM_080680.3:c.4934T>C MANE Select	NP_542411.2:p.Val1645Ala
NM_080681.3:c.4676T>C	NP_542412.2:p.Val1559Ala
NM_080679.3:c.4613T>C	NP_542410.2:p.Val1538Ala