Canonical Allele Identifier: CA3749950

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2747995
• ClinVar RCV Id: RCV003570746
• dbSNP Id: rs556677734
• ExAC: 6:33132181 C / A
• gnomAD v2: 6-33132181-C-A
• gnomAD v3: 6-33164404-C-A
• gnomAD v4: 6-33164404-C-A
• MyVariant Identifiers: chr6:g.33132181C>A (hg19) ; chr6:g.33164404C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164404C>A , CM000668.2:g.33164404C>A	GRCh38
NC_000006.11:g.33132181C>A , CM000668.1:g.33132181C>A	GRCh37
NC_000006.10:g.33240159C>A	NCBI36
NG_011589.1:g.33065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.739G>T
ENST00000341947.7:c.4933G>T MANE Select	ENSP00000339915.2:p.Val1645Phe
ENST00000341947.6:c.4933G>T	ENSP00000339915.2:p.Val1645Phe
ENST00000361917.5:c.4612G>T	ENSP00000355123.1:p.Val1538Phe
ENST00000374708.8:c.4675G>T	ENSP00000363840.4:p.Val1559Phe
ENST00000477772.1:n.723G>T
NM_080679.2:c.4612G>T	NP_542410.2:p.Val1538Phe
NM_080680.2:c.4933G>T	NP_542411.2:p.Val1645Phe
NM_080681.2:c.4675G>T	NP_542412.2:p.Val1559Phe
XM_011514298.1:c.4087G>T	XP_011512600.1:p.Val1363Phe
XM_011514299.1:c.4219G>T	XP_011512601.1:p.Val1407Phe
XM_011514300.1:c.4039G>T	XP_011512602.1:p.Val1347Phe
XM_011514301.1:c.3976G>T	XP_011512603.1:p.Val1326Phe
XM_011514302.1:c.3820G>T	XP_011512604.1:p.Val1274Phe
XM_011514299.2:c.4219G>T	XP_011512601.1:p.Val1407Phe
XM_011514300.2:c.4039G>T	XP_011512602.1:p.Val1347Phe
XM_011514302.2:c.3820G>T	XP_011512604.1:p.Val1274Phe
XM_017010250.1:c.4933G>T	XP_016865739.1:p.Val1645Phe
XM_017010251.2:c.3751G>T	XP_016865740.1:p.Val1251Phe
NM_080680.3:c.4933G>T MANE Select	NP_542411.2:p.Val1645Phe
NM_080681.3:c.4675G>T	NP_542412.2:p.Val1559Phe
NM_080679.3:c.4612G>T	NP_542410.2:p.Val1538Phe