Canonical Allele Identifier: CA363616275

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1392771
• ClinVar RCV Id: RCV001882262
• dbSNP Id: rs1350210126
• gnomAD v2: 6-33132162-A-G
• gnomAD v4: 6-33164385-A-G
• MyVariant Identifiers: chr6:g.33132162A>G (hg19) ; chr6:g.33164385A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164385A>G , CM000668.2:g.33164385A>G	GRCh38
NC_000006.11:g.33132162A>G , CM000668.1:g.33132162A>G	GRCh37
NC_000006.10:g.33240140A>G	NCBI36
NG_011589.1:g.33084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.758T>C
ENST00000341947.7:c.4952T>C MANE Select	ENSP00000339915.2:p.Val1651Ala
ENST00000341947.6:c.4952T>C	ENSP00000339915.2:p.Val1651Ala
ENST00000361917.5:c.4631T>C	ENSP00000355123.1:p.Val1544Ala
ENST00000374708.8:c.4694T>C	ENSP00000363840.4:p.Val1565Ala
ENST00000477772.1:n.742T>C
NM_080679.2:c.4631T>C	NP_542410.2:p.Val1544Ala
NM_080680.2:c.4952T>C	NP_542411.2:p.Val1651Ala
NM_080681.2:c.4694T>C	NP_542412.2:p.Val1565Ala
XM_011514298.1:c.4106T>C	XP_011512600.1:p.Val1369Ala
XM_011514299.1:c.4238T>C	XP_011512601.1:p.Val1413Ala
XM_011514300.1:c.4058T>C	XP_011512602.1:p.Val1353Ala
XM_011514301.1:c.3995T>C	XP_011512603.1:p.Val1332Ala
XM_011514302.1:c.3839T>C	XP_011512604.1:p.Val1280Ala
XM_011514299.2:c.4238T>C	XP_011512601.1:p.Val1413Ala
XM_011514300.2:c.4058T>C	XP_011512602.1:p.Val1353Ala
XM_011514302.2:c.3839T>C	XP_011512604.1:p.Val1280Ala
XM_017010250.1:c.4952T>C	XP_016865739.1:p.Val1651Ala
XM_017010251.2:c.3770T>C	XP_016865740.1:p.Val1257Ala
NM_080680.3:c.4952T>C MANE Select	NP_542411.2:p.Val1651Ala
NM_080681.3:c.4694T>C	NP_542412.2:p.Val1565Ala
NM_080679.3:c.4631T>C	NP_542410.2:p.Val1544Ala