Canonical Allele Identifier: CA3749998

Gene: COL11A2

Linked Data

• dbSNP Id: rs140553708
• ExAC: 6:33132737 C / A
• gnomAD v4: 6-33164960-C-A
• MyVariant Identifiers: chr6:g.33132737C>A (hg19) ; chr6:g.33164960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164960C>A , CM000668.2:g.33164960C>A	GRCh38
NC_000006.11:g.33132737C>A , CM000668.1:g.33132737C>A	GRCh37
NC_000006.10:g.33240715C>A	NCBI36
NG_011589.1:g.32509G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.561G>T
ENST00000341947.7:c.4755G>T MANE Select	ENSP00000339915.2:p.Glu1585Asp
ENST00000341947.6:c.4755G>T	ENSP00000339915.2:p.Glu1585Asp
ENST00000361917.5:c.4434G>T	ENSP00000355123.1:p.Glu1478Asp
ENST00000374708.8:c.4497G>T	ENSP00000363840.4:p.Glu1499Asp
ENST00000477772.1:n.545G>T
NM_080679.2:c.4434G>T	NP_542410.2:p.Glu1478Asp
NM_080680.2:c.4755G>T	NP_542411.2:p.Glu1585Asp
NM_080681.2:c.4497G>T	NP_542412.2:p.Glu1499Asp
XM_011514298.1:c.3909G>T	XP_011512600.1:p.Glu1303Asp
XM_011514299.1:c.4041G>T	XP_011512601.1:p.Glu1347Asp
XM_011514300.1:c.3861G>T	XP_011512602.1:p.Glu1287Asp
XM_011514301.1:c.3798G>T	XP_011512603.1:p.Glu1266Asp
XM_011514302.1:c.3642G>T	XP_011512604.1:p.Glu1214Asp
XM_011514299.2:c.4041G>T	XP_011512601.1:p.Glu1347Asp
XM_011514300.2:c.3861G>T	XP_011512602.1:p.Glu1287Asp
XM_011514302.2:c.3642G>T	XP_011512604.1:p.Glu1214Asp
XM_017010250.1:c.4755G>T	XP_016865739.1:p.Glu1585Asp
XM_017010251.2:c.3573G>T	XP_016865740.1:p.Glu1191Asp
NM_080680.3:c.4755G>T MANE Select	NP_542411.2:p.Glu1585Asp
NM_080681.3:c.4497G>T	NP_542412.2:p.Glu1499Asp
NM_080679.3:c.4434G>T	NP_542410.2:p.Glu1478Asp