Canonical Allele Identifier: CA363616660

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132244A>T (hg19) ; chr6:g.33164467A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164467A>T , CM000668.2:g.33164467A>T	GRCh38
NC_000006.11:g.33132244A>T , CM000668.1:g.33132244A>T	GRCh37
NC_000006.10:g.33240222A>T	NCBI36
NG_011589.1:g.33002T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.676T>A
ENST00000341947.7:c.4870T>A MANE Select	ENSP00000339915.2:p.Tyr1624Asn
ENST00000341947.6:c.4870T>A	ENSP00000339915.2:p.Tyr1624Asn
ENST00000361917.5:c.4549T>A	ENSP00000355123.1:p.Tyr1517Asn
ENST00000374708.8:c.4612T>A	ENSP00000363840.4:p.Tyr1538Asn
ENST00000477772.1:n.660T>A
NM_080679.2:c.4549T>A	NP_542410.2:p.Tyr1517Asn
NM_080680.2:c.4870T>A	NP_542411.2:p.Tyr1624Asn
NM_080681.2:c.4612T>A	NP_542412.2:p.Tyr1538Asn
XM_011514298.1:c.4024T>A	XP_011512600.1:p.Tyr1342Asn
XM_011514299.1:c.4156T>A	XP_011512601.1:p.Tyr1386Asn
XM_011514300.1:c.3976T>A	XP_011512602.1:p.Tyr1326Asn
XM_011514301.1:c.3913T>A	XP_011512603.1:p.Tyr1305Asn
XM_011514302.1:c.3757T>A	XP_011512604.1:p.Tyr1253Asn
XM_011514299.2:c.4156T>A	XP_011512601.1:p.Tyr1386Asn
XM_011514300.2:c.3976T>A	XP_011512602.1:p.Tyr1326Asn
XM_011514302.2:c.3757T>A	XP_011512604.1:p.Tyr1253Asn
XM_017010250.1:c.4870T>A	XP_016865739.1:p.Tyr1624Asn
XM_017010251.2:c.3688T>A	XP_016865740.1:p.Tyr1230Asn
NM_080680.3:c.4870T>A MANE Select	NP_542411.2:p.Tyr1624Asn
NM_080681.3:c.4612T>A	NP_542412.2:p.Tyr1538Asn
NM_080679.3:c.4549T>A	NP_542410.2:p.Tyr1517Asn