Canonical Allele Identifier: CA2639297969

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832106-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832106A>G , CM000679.2:g.63832106A>G	GRCh38
NC_000017.10:g.61909466A>G , CM000679.1:g.61909466A>G	GRCh37
NC_000017.9:g.59263198A>G	NCBI36
NG_053004.1:g.15886T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3280T>C
ENST00000698013.1:n.3392T>C
ENST00000698014.1:n.3615T>C
ENST00000698015.1:n.2708T>C
ENST00000698016.1:c.*832T>C	ENSP00000513502.1:n.*832T>C
ENST00000698017.1:n.2782T>C
ENST00000698018.1:n.2913T>C
ENST00000698019.1:n.3111T>C
ENST00000698020.1:n.2217T>C
ENST00000698021.1:c.2126T>C
ENST00000698022.1:c.*832T>C	ENSP00000513504.1:n.*832T>C
ENST00000698023.1:n.2811T>C
ENST00000698024.1:n.2673T>C
ENST00000448276.7:c.*832T>C MANE Select	ENSP00000392617.2:n.*832T>C
ENST00000448276.6:c.*832T>C	ENSP00000392617.2:n.*832T>C
ENST00000613943.4:c.2317T>C	ENSP00000483605.1:n.2317T>C
NM_001098426.1:c.*832T>C	NP_001091896.1:n.*832T>C
XM_005257604.2:c.*832T>C	XP_005257661.2:n.*832T>C
NM_001330439.1:c.*832T>C	NP_001317368.1:n.*832T>C
NM_001330440.1:c.*832T>C	NP_001317369.1:n.*832T>C
NM_001098426.2:c.*832T>C MANE Select	NP_001091896.1:n.*832T>C
NM_001330440.2:c.*832T>C	NP_001317369.1:n.*832T>C