Canonical Allele Identifier: CA824029664

Gene: COL11A2

Linked Data

• dbSNP Id: rs1341953031
• gnomAD v4: 6-33164726-G-A
• MyVariant Identifiers: chr6:g.33132503G>A (hg19) ; chr6:g.33164726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164726G>A , CM000668.2:g.33164726G>A	GRCh38
NC_000006.11:g.33132503G>A , CM000668.1:g.33132503G>A	GRCh37
NC_000006.10:g.33240481G>A	NCBI36
NG_011589.1:g.32743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.669+126C>T
ENST00000341947.7:c.4863+126C>T MANE Select	ENSP00000339915.2:n.4863+126C>T
ENST00000341947.6:c.4863+126C>T	ENSP00000339915.2:n.4863+126C>T
ENST00000361917.5:c.4542+126C>T	ENSP00000355123.1:n.4542+126C>T
ENST00000374708.8:c.4605+126C>T	ENSP00000363840.4:n.4605+126C>T
ENST00000477772.1:n.653+126C>T
NM_080679.2:c.4542+126C>T	NP_542410.2:n.4542+126C>T
NM_080680.2:c.4863+126C>T	NP_542411.2:n.4863+126C>T
NM_080681.2:c.4605+126C>T	NP_542412.2:n.4605+126C>T
XM_011514298.1:c.4017+126C>T	XP_011512600.1:n.4017+126C>T
XM_011514299.1:c.4149+126C>T	XP_011512601.1:n.4149+126C>T
XM_011514300.1:c.3969+126C>T	XP_011512602.1:n.3969+126C>T
XM_011514301.1:c.3906+126C>T	XP_011512603.1:n.3906+126C>T
XM_011514302.1:c.3750+126C>T	XP_011512604.1:n.3750+126C>T
XM_011514299.2:c.4149+126C>T	XP_011512601.1:n.4149+126C>T
XM_011514300.2:c.3969+126C>T	XP_011512602.1:n.3969+126C>T
XM_011514302.2:c.3750+126C>T	XP_011512604.1:n.3750+126C>T
XM_017010250.1:c.4863+126C>T	XP_016865739.1:n.4863+126C>T
XM_017010251.2:c.3681+126C>T	XP_016865740.1:n.3681+126C>T
NM_080680.3:c.4863+126C>T MANE Select	NP_542411.2:n.4863+126C>T
NM_080681.3:c.4605+126C>T	NP_542412.2:n.4605+126C>T
NM_080679.3:c.4542+126C>T	NP_542410.2:n.4542+126C>T