Canonical Allele Identifier: CA3749962

Gene: COL11A2

Linked Data

• dbSNP Id: rs766790474
• ExAC: 6:33132234 G / A
• gnomAD v2: 6-33132234-G-A
• gnomAD v4: 6-33164457-G-A
• MyVariant Identifiers: chr6:g.33132234G>A (hg19) ; chr6:g.33164457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164457G>A , CM000668.2:g.33164457G>A	GRCh38
NC_000006.11:g.33132234G>A , CM000668.1:g.33132234G>A	GRCh37
NC_000006.10:g.33240212G>A	NCBI36
NG_011589.1:g.33012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.686C>T
ENST00000341947.7:c.4880C>T MANE Select	ENSP00000339915.2:p.Ser1627Leu
ENST00000341947.6:c.4880C>T	ENSP00000339915.2:p.Ser1627Leu
ENST00000361917.5:c.4559C>T	ENSP00000355123.1:p.Ser1520Leu
ENST00000374708.8:c.4622C>T	ENSP00000363840.4:p.Ser1541Leu
ENST00000477772.1:n.670C>T
NM_080679.2:c.4559C>T	NP_542410.2:p.Ser1520Leu
NM_080680.2:c.4880C>T	NP_542411.2:p.Ser1627Leu
NM_080681.2:c.4622C>T	NP_542412.2:p.Ser1541Leu
XM_011514298.1:c.4034C>T	XP_011512600.1:p.Ser1345Leu
XM_011514299.1:c.4166C>T	XP_011512601.1:p.Ser1389Leu
XM_011514300.1:c.3986C>T	XP_011512602.1:p.Ser1329Leu
XM_011514301.1:c.3923C>T	XP_011512603.1:p.Ser1308Leu
XM_011514302.1:c.3767C>T	XP_011512604.1:p.Ser1256Leu
XM_011514299.2:c.4166C>T	XP_011512601.1:p.Ser1389Leu
XM_011514300.2:c.3986C>T	XP_011512602.1:p.Ser1329Leu
XM_011514302.2:c.3767C>T	XP_011512604.1:p.Ser1256Leu
XM_017010250.1:c.4880C>T	XP_016865739.1:p.Ser1627Leu
XM_017010251.2:c.3698C>T	XP_016865740.1:p.Ser1233Leu
NM_080680.3:c.4880C>T MANE Select	NP_542411.2:p.Ser1627Leu
NM_080681.3:c.4622C>T	NP_542412.2:p.Ser1541Leu
NM_080679.3:c.4559C>T	NP_542410.2:p.Ser1520Leu