Canonical Allele Identifier: CA3750754

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356397
• ClinVar RCV Id: RCV000274611 ; RCV000309896 ; RCV000331935 ; RCV000366859 ; RCV001850901
• dbSNP Id: rs548592690
• ExAC: 6:33141126 A / G
• gnomAD v2: 6-33141126-A-G
• gnomAD v3: 6-33173349-A-G
• gnomAD v4: 6-33173349-A-G
• MyVariant Identifiers: chr6:g.33141126A>G (hg19) ; chr6:g.33173349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33173349A>G , CM000668.2:g.33173349A>G	GRCh38
NC_000006.11:g.33141126A>G , CM000668.1:g.33141126A>G	GRCh37
NC_000006.10:g.33249104A>G	NCBI36
NG_011589.1:g.24120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.2735T>C MANE Select	ENSP00000339915.2:p.Val912Ala
ENST00000341947.6:c.2735T>C	ENSP00000339915.2:p.Val912Ala
ENST00000361917.5:c.2414T>C	ENSP00000355123.1:p.Val805Ala
ENST00000374708.8:c.2477T>C	ENSP00000363840.4:p.Val826Ala
ENST00000477772.1:n.272+3660T>C
NM_080679.2:c.2414T>C	NP_542410.2:p.Val805Ala
NM_080680.2:c.2735T>C	NP_542411.2:p.Val912Ala
NM_080681.2:c.2477T>C	NP_542412.2:p.Val826Ala
XM_011514298.1:c.1889T>C	XP_011512600.1:p.Val630Ala
XM_011514299.1:c.2021T>C	XP_011512601.1:p.Val674Ala
XM_011514300.1:c.1841T>C	XP_011512602.1:p.Val614Ala
XM_011514301.1:c.1778T>C	XP_011512603.1:p.Val593Ala
XM_011514302.1:c.1622T>C	XP_011512604.1:p.Val541Ala
XM_011514299.2:c.2021T>C	XP_011512601.1:p.Val674Ala
XM_011514300.2:c.1841T>C	XP_011512602.1:p.Val614Ala
XM_011514302.2:c.1622T>C	XP_011512604.1:p.Val541Ala
XM_017010250.1:c.2735T>C	XP_016865739.1:p.Val912Ala
XM_017010251.2:c.1553T>C	XP_016865740.1:p.Val518Ala
NM_080680.3:c.2735T>C MANE Select	NP_542411.2:p.Val912Ala
NM_080681.3:c.2477T>C	NP_542412.2:p.Val826Ala
NM_080679.3:c.2414T>C	NP_542410.2:p.Val805Ala