Canonical Allele Identifier: CA363616607

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1357906
• ClinVar RCV Id: RCV001863943
• dbSNP Id: rs2150511349
• MyVariant Identifiers: chr6:g.33132235A>C (hg19) ; chr6:g.33164458A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164458A>C , CM000668.2:g.33164458A>C	GRCh38
NC_000006.11:g.33132235A>C , CM000668.1:g.33132235A>C	GRCh37
NC_000006.10:g.33240213A>C	NCBI36
NG_011589.1:g.33011T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.685T>G
ENST00000341947.7:c.4879T>G MANE Select	ENSP00000339915.2:p.Ser1627Ala
ENST00000341947.6:c.4879T>G	ENSP00000339915.2:p.Ser1627Ala
ENST00000361917.5:c.4558T>G	ENSP00000355123.1:p.Ser1520Ala
ENST00000374708.8:c.4621T>G	ENSP00000363840.4:p.Ser1541Ala
ENST00000477772.1:n.669T>G
NM_080679.2:c.4558T>G	NP_542410.2:p.Ser1520Ala
NM_080680.2:c.4879T>G	NP_542411.2:p.Ser1627Ala
NM_080681.2:c.4621T>G	NP_542412.2:p.Ser1541Ala
XM_011514298.1:c.4033T>G	XP_011512600.1:p.Ser1345Ala
XM_011514299.1:c.4165T>G	XP_011512601.1:p.Ser1389Ala
XM_011514300.1:c.3985T>G	XP_011512602.1:p.Ser1329Ala
XM_011514301.1:c.3922T>G	XP_011512603.1:p.Ser1308Ala
XM_011514302.1:c.3766T>G	XP_011512604.1:p.Ser1256Ala
XM_011514299.2:c.4165T>G	XP_011512601.1:p.Ser1389Ala
XM_011514300.2:c.3985T>G	XP_011512602.1:p.Ser1329Ala
XM_011514302.2:c.3766T>G	XP_011512604.1:p.Ser1256Ala
XM_017010250.1:c.4879T>G	XP_016865739.1:p.Ser1627Ala
XM_017010251.2:c.3697T>G	XP_016865740.1:p.Ser1233Ala
NM_080680.3:c.4879T>G MANE Select	NP_542411.2:p.Ser1627Ala
NM_080681.3:c.4621T>G	NP_542412.2:p.Ser1541Ala
NM_080679.3:c.4558T>G	NP_542410.2:p.Ser1520Ala