Canonical Allele Identifier: CA363616478

Gene: COL11A2

Linked Data

• dbSNP Id: rs1270194928
• gnomAD v2: 6-33132205-G-C
• MyVariant Identifiers: chr6:g.33132205G>C (hg19) ; chr6:g.33164428G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164428G>C , CM000668.2:g.33164428G>C	GRCh38
NC_000006.11:g.33132205G>C , CM000668.1:g.33132205G>C	GRCh37
NC_000006.10:g.33240183G>C	NCBI36
NG_011589.1:g.33041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.715C>G
ENST00000341947.7:c.4909C>G MANE Select	ENSP00000339915.2:p.Leu1637Val
ENST00000341947.6:c.4909C>G	ENSP00000339915.2:p.Leu1637Val
ENST00000361917.5:c.4588C>G	ENSP00000355123.1:p.Leu1530Val
ENST00000374708.8:c.4651C>G	ENSP00000363840.4:p.Leu1551Val
ENST00000477772.1:n.699C>G
NM_080679.2:c.4588C>G	NP_542410.2:p.Leu1530Val
NM_080680.2:c.4909C>G	NP_542411.2:p.Leu1637Val
NM_080681.2:c.4651C>G	NP_542412.2:p.Leu1551Val
XM_011514298.1:c.4063C>G	XP_011512600.1:p.Leu1355Val
XM_011514299.1:c.4195C>G	XP_011512601.1:p.Leu1399Val
XM_011514300.1:c.4015C>G	XP_011512602.1:p.Leu1339Val
XM_011514301.1:c.3952C>G	XP_011512603.1:p.Leu1318Val
XM_011514302.1:c.3796C>G	XP_011512604.1:p.Leu1266Val
XM_011514299.2:c.4195C>G	XP_011512601.1:p.Leu1399Val
XM_011514300.2:c.4015C>G	XP_011512602.1:p.Leu1339Val
XM_011514302.2:c.3796C>G	XP_011512604.1:p.Leu1266Val
XM_017010250.1:c.4909C>G	XP_016865739.1:p.Leu1637Val
XM_017010251.2:c.3727C>G	XP_016865740.1:p.Leu1243Val
NM_080680.3:c.4909C>G MANE Select	NP_542411.2:p.Leu1637Val
NM_080681.3:c.4651C>G	NP_542412.2:p.Leu1551Val
NM_080679.3:c.4588C>G	NP_542410.2:p.Leu1530Val