Canonical Allele Identifier: CA454421635

Gene: CHN2

Linked Data

• dbSNP Id: rs1349746527
• gnomAD v2: 7-29438100-C-T
• gnomAD v4: 7-29398484-C-T
• MyVariant Identifiers: chr7:g.29438100C>T (hg19) ; chr7:g.29398484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398484C>T , CM000669.2:g.29398484C>T	GRCh38
NC_000007.13:g.29438100C>T , CM000669.1:g.29438100C>T	GRCh37
NC_000007.12:g.29404625C>T	NCBI36
NG_029365.2:g.256938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.327C>T	ENSP00000386968.2:p.Leu109=
ENST00000439384.6:n.550C>T
ENST00000446446.6:c.288C>T	ENSP00000396867.2:p.Leu96=
ENST00000706158.1:c.*232C>T	ENSP00000516236.1:n.*232C>T
ENST00000706159.1:c.200C>T	ENSP00000516237.1:p.Ser67Leu
ENST00000706160.1:c.288C>T	ENSP00000516238.1:p.Leu96=
ENST00000706161.1:c.366C>T	ENSP00000516239.1:p.Leu122=
ENST00000706162.1:c.288C>T	ENSP00000516240.1:p.Leu96=
ENST00000706163.1:c.50-81795C>T	ENSP00000516241.1:n.50-81795C>T
ENST00000222792.11:c.288C>T MANE Select	ENSP00000222792.7:p.Leu96=
ENST00000644824.1:c.513C>T	ENSP00000495614.1:p.Leu171=
ENST00000222792.10:c.288C>T	ENSP00000222792.6:p.Leu96=
ENST00000409350.5:c.327C>T	ENSP00000386968.1:p.Leu109=
ENST00000409922.5:n.499C>T
ENST00000409964.6:n.487C>T
ENST00000412536.5:n.308C>T
ENST00000435288.6:c.168+4782C>T	ENSP00000400282.3:n.168+4782C>T
ENST00000439384.5:c.513C>T	ENSP00000409843.1:p.Leu171=
ENST00000474070.5:c.388C>T
ENST00000478128.6:n.382C>T
ENST00000482820.6:n.497C>T
ENST00000491856.1:n.1837C>T
ENST00000495789.6:c.288C>T	ENSP00000438587.2:p.Leu96=
ENST00000539389.5:c.288C>T	ENSP00000440526.2:p.Leu96=
ENST00000539406.5:c.288C>T	ENSP00000444063.2:p.Leu96=
NM_001293069.1:c.513C>T	NP_001279998.1:p.Leu171=
NM_001293070.1:c.327C>T	NP_001279999.1:p.Leu109=
NM_001293071.1:c.183C>T	NP_001280000.1:p.Leu61=
NM_001293072.1:c.243C>T	NP_001280001.1:p.Leu81=
NM_004067.3:c.288C>T	NP_004058.1:p.Leu96=
XM_011515105.1:c.591C>T	XP_011513407.1:p.Leu197=
XM_011515106.1:c.552C>T	XP_011513408.1:p.Leu184=
XM_011515107.1:c.366C>T	XP_011513409.1:p.Leu122=
XM_011515108.1:c.288C>T	XP_011513410.1:p.Leu96=
XM_011515109.1:c.249C>T	XP_011513411.1:p.Leu83=
XM_011515110.1:c.210C>T	XP_011513412.1:p.Leu70=
XM_011515111.1:c.183C>T	XP_011513413.1:p.Leu61=
XM_011515112.1:c.591C>T	XP_011513414.1:p.Leu197=
XM_011515105.2:c.591C>T	XP_011513407.1:p.Leu197=
XM_011515106.2:c.552C>T	XP_011513408.1:p.Leu184=
XM_011515107.2:c.366C>T	XP_011513409.1:p.Leu122=
XM_017011721.1:c.609C>T	XP_016867210.1:p.Leu203=
XM_017011722.1:c.384C>T	XP_016867211.1:p.Leu128=
NM_004067.4:c.288C>T MANE Select	NP_004058.1:p.Leu96=
NM_001293070.2:c.327C>T	NP_001279999.1:p.Leu109=
NM_001293071.2:c.183C>T	NP_001280000.1:p.Leu61=
NM_001293072.2:c.243C>T	NP_001280001.1:p.Leu81=
NM_001398427.1:c.-151C>T	NP_001385356.1:n.-151C>T