Canonical Allele Identifier: CA292951735

Gene: SMARCD2

Linked Data

• dbSNP Id: rs558726996
• gnomAD v2: 17-61909724-A-G
• gnomAD v3: 17-63832364-A-G
• gnomAD v4: 17-63832364-A-G
• MyVariant Identifiers: chr17:g.61909724A>G (hg19) ; chr17:g.63832364A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832364A>G , CM000679.2:g.63832364A>G	GRCh38
NC_000017.10:g.61909724A>G , CM000679.1:g.61909724A>G	GRCh37
NC_000017.9:g.59263456A>G	NCBI36
NG_053004.1:g.15628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2449T>C
ENST00000697953.1:n.3022T>C
ENST00000698013.1:n.3134T>C
ENST00000698014.1:n.3357T>C
ENST00000698015.1:n.2450T>C
ENST00000698016.1:c.*574T>C	ENSP00000513502.1:n.*574T>C
ENST00000698017.1:n.2524T>C
ENST00000698018.1:n.2655T>C
ENST00000698019.1:n.2853T>C
ENST00000698020.1:n.1959T>C
ENST00000698021.1:c.1868T>C
ENST00000698022.1:c.*574T>C	ENSP00000513504.1:n.*574T>C
ENST00000698023.1:n.2553T>C
ENST00000698024.1:n.2415T>C
ENST00000698025.1:n.2575T>C
ENST00000698026.1:n.1466T>C
ENST00000698027.1:c.*791T>C	ENSP00000513505.1:n.*791T>C
ENST00000698028.1:n.2658T>C
ENST00000698029.1:n.3387T>C
ENST00000448276.7:c.*574T>C MANE Select	ENSP00000392617.2:n.*574T>C
ENST00000448276.6:c.*574T>C	ENSP00000392617.2:n.*574T>C
ENST00000613943.4:c.2059T>C	ENSP00000483605.1:n.2059T>C
NM_001098426.1:c.*574T>C	NP_001091896.1:n.*574T>C
XM_005257604.2:c.*574T>C	XP_005257661.2:n.*574T>C
NM_001330439.1:c.*574T>C	NP_001317368.1:n.*574T>C
NM_001330440.1:c.*574T>C	NP_001317369.1:n.*574T>C
NM_001098426.2:c.*574T>C MANE Select	NP_001091896.1:n.*574T>C
NM_001330440.2:c.*574T>C	NP_001317369.1:n.*574T>C