Canonical Allele Identifier: CA363617846

Gene: COL11A2

Linked Data

• dbSNP Id: rs1248559401
• gnomAD v2: 6-33132729-A-G
• gnomAD v4: 6-33164952-A-G
• MyVariant Identifiers: chr6:g.33132729A>G (hg19) ; chr6:g.33164952A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164952A>G , CM000668.2:g.33164952A>G	GRCh38
NC_000006.11:g.33132729A>G , CM000668.1:g.33132729A>G	GRCh37
NC_000006.10:g.33240707A>G	NCBI36
NG_011589.1:g.32517T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.569T>C
ENST00000341947.7:c.4763T>C MANE Select	ENSP00000339915.2:p.Val1588Ala
ENST00000341947.6:c.4763T>C	ENSP00000339915.2:p.Val1588Ala
ENST00000361917.5:c.4442T>C	ENSP00000355123.1:p.Val1481Ala
ENST00000374708.8:c.4505T>C	ENSP00000363840.4:p.Val1502Ala
ENST00000477772.1:n.553T>C
NM_080679.2:c.4442T>C	NP_542410.2:p.Val1481Ala
NM_080680.2:c.4763T>C	NP_542411.2:p.Val1588Ala
NM_080681.2:c.4505T>C	NP_542412.2:p.Val1502Ala
XM_011514298.1:c.3917T>C	XP_011512600.1:p.Val1306Ala
XM_011514299.1:c.4049T>C	XP_011512601.1:p.Val1350Ala
XM_011514300.1:c.3869T>C	XP_011512602.1:p.Val1290Ala
XM_011514301.1:c.3806T>C	XP_011512603.1:p.Val1269Ala
XM_011514302.1:c.3650T>C	XP_011512604.1:p.Val1217Ala
XM_011514299.2:c.4049T>C	XP_011512601.1:p.Val1350Ala
XM_011514300.2:c.3869T>C	XP_011512602.1:p.Val1290Ala
XM_011514302.2:c.3650T>C	XP_011512604.1:p.Val1217Ala
XM_017010250.1:c.4763T>C	XP_016865739.1:p.Val1588Ala
XM_017010251.2:c.3581T>C	XP_016865740.1:p.Val1194Ala
NM_080680.3:c.4763T>C MANE Select	NP_542411.2:p.Val1588Ala
NM_080681.3:c.4505T>C	NP_542412.2:p.Val1502Ala
NM_080679.3:c.4442T>C	NP_542410.2:p.Val1481Ala