Canonical Allele Identifier: CA363616058

Gene: COL11A2

Linked Data

• dbSNP Id: rs1466062947
• gnomAD v2: 6-33132117-A-G
• gnomAD v4: 6-33164340-A-G
• MyVariant Identifiers: chr6:g.33132117A>G (hg19) ; chr6:g.33164340A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164340A>G , CM000668.2:g.33164340A>G	GRCh38
NC_000006.11:g.33132117A>G , CM000668.1:g.33132117A>G	GRCh37
NC_000006.10:g.33240095A>G	NCBI36
NG_011589.1:g.33129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.803T>C
ENST00000341947.7:c.4997T>C MANE Select	ENSP00000339915.2:p.Leu1666Pro
ENST00000341947.6:c.4997T>C	ENSP00000339915.2:p.Leu1666Pro
ENST00000361917.5:c.4676T>C	ENSP00000355123.1:p.Leu1559Pro
ENST00000374708.8:c.4739T>C	ENSP00000363840.4:p.Leu1580Pro
ENST00000477772.1:n.787T>C
NM_080679.2:c.4676T>C	NP_542410.2:p.Leu1559Pro
NM_080680.2:c.4997T>C	NP_542411.2:p.Leu1666Pro
NM_080681.2:c.4739T>C	NP_542412.2:p.Leu1580Pro
XM_011514298.1:c.4151T>C	XP_011512600.1:p.Leu1384Pro
XM_011514299.1:c.4283T>C	XP_011512601.1:p.Leu1428Pro
XM_011514300.1:c.4103T>C	XP_011512602.1:p.Leu1368Pro
XM_011514301.1:c.4040T>C	XP_011512603.1:p.Leu1347Pro
XM_011514302.1:c.3884T>C	XP_011512604.1:p.Leu1295Pro
XM_011514299.2:c.4283T>C	XP_011512601.1:p.Leu1428Pro
XM_011514300.2:c.4103T>C	XP_011512602.1:p.Leu1368Pro
XM_011514302.2:c.3884T>C	XP_011512604.1:p.Leu1295Pro
XM_017010250.1:c.4997T>C	XP_016865739.1:p.Leu1666Pro
XM_017010251.2:c.3815T>C	XP_016865740.1:p.Leu1272Pro
NM_080680.3:c.4997T>C MANE Select	NP_542411.2:p.Leu1666Pro
NM_080681.3:c.4739T>C	NP_542412.2:p.Leu1580Pro
NM_080679.3:c.4676T>C	NP_542410.2:p.Leu1559Pro